OMIM Neuromuscular Diseases Study

Step one: Datasets of NMDs, genes, phenotypes and typical NMD phenotypes

OMIM offer a brief description of diseases.
By conducting a literature review, we can stabilize a number of keywords to filter the OMIM diseases and get a certain number of neuromuscular diseases:
- MUSCULAR DYSTROPHY.
- MYOPATHY.
- MYASTHENIC.
- MYASTHENIA.
- NEUROPATHY.
- AMYOTROPHIC LATERAL SCLEROSIS.
- SPINAL MUSCULAR ATROPHY.
- SPINAL AND BULBAR MUSCULAR ATROPHY.
- MYOTONIA.
- PERIODIC PARALYSIS.
- MYOTONIC DYSTROPHY.
- MITOCHONDRIAL CYTOPATHY.
- NECROTIZING ENCEPHALOMYELOPATHY.
- MITOCHONDRIAL DNA DEPLETION.

Once we have the list of neuromuscular diseases, we count the frequency of phenotypes in neuromuscular and non neuromuscular diseases. With these data, we can perform a fisher test analysis to find those phenotypes which are more represented in neuromusculare diseases rather than in non neuromuscular diseases.

Table 1: Preprocesing data summary.
Metric Value
Total_OMIM_diseases 26943
Total_OMIM_diseases_in_HPO 5189
Total_OMIM_phenotypes 6385
Total_OMIM_genes 4015
OMIM_NMD 556
Total_OMIM_NMD_in_HPO 424
Total_OMIM_neuromuscular_phenotypes 335

Step 2: Bipartite network to obtain phenotype-phenotype associations

Table 2: Bipartite results general summary.
Metric Value
Total_phenotype_pairs 455379
Significant_phenotype_pairs 125720

In the following plot we can see the number of pairs which form the subnetwork with a HyI >= 2.

Figure 1: Number of phenotype pairs with a HyI >= 2.

Table 3: Number of phenotype pairs with a HyI >= 2.
Type Pairs Number
NMDs 4579 ± NA
non_NMDs 654.7 ± 46.437

Validating phenotype-phenotye associations by PubMed co-mention

Figure 2 Comention pvalue density plot.

Table 4 Number of co-occurrent pairs.
Type Pairs Number
NMDs 1173 ± NA
non_NMDs 333.08 ± 34.633

Step 3: Tripartite network to obtain phenotype-function pairs

In this step we will get phenotype-genes pairs. Through a functional assignment of these genes we can get phenotype-function pairs.

Table 5 Tripartite results general summary.
Metric Value
Number_of_genes 4015
Number_of_phen2gene_pairs_HyI_2 34139
Number_of_genes_HyI_2 3870
NMD_genes_HyI_2 1078
Total_kegg_terms_0.05 214
Total_go_terms_0.05 6398
Total_reactome_terms_0.05 1397
NMD_kegg_0.05 142
NMD_go_0.05 3747
NMD_reactome_0.05 821

Validating phenotype-function associations by PubMed co-mention

KEGG

Figure 3 Significant phenotype-KEGG pairs

Table 6 Significant phenotype-KEGG pairs.
Type Co-occurrent pairs No co-occurrent pairs
phen2kegg_omim 1858 ± NA 15376 ± NA
rdm_phen2kegg_omim 626.72 ± 22.148 16607.28 ± 22.148

GO

Figure 4 Significant phenotype-GO pairs.

Table 7 Significant phenotype-GO pairs.
Type Co-occurrent pairs No co-occurrent pairs
phen2go_omim 26841 ± NA 520492 ± NA
rdm_phen2go_omim 10814.444 ± 80.538 536512.556 ± 82.518
Reactome

Figure 5 Significant phenotype-Reactome pairs.

Table 8 Significant phenotype-Reactome pairs.
Type Co-occurrent pairs No co-occurrent pairs
phen2reactome_omim 3278 ± NA 74857 ± NA
rdm_phen2reactome_omim 1001.206 ± 166.295 78589.433 ± 12828.536

Step 4: Cluster Analysis

With linkcomm R package we obtain a number of clusters for each network. In the following plots we show some results of the clustering process. By one hand we have measured the number of clusters obtained and the average number of nodes of each cluster.

Figure 6 Cluster analysis summary.

Table 9 Cluster analysis summary.
Type Cluster Number Average Cluster size
NMDs 231 ± NA 16.749 ± NA
non_NMDs 94.98 ± 9.571 5.551 ± 0.573

Functionally-coherent clusters of phenotypes in NMDs

Figure 7 Functional coherent clusters.

Table 10 Functional coherent clusters summary.
Type Cluster with 70 coherence_0.05 Cluster with 50 coherence_0.05
NMDs 40 ± NA 131 ± NA
non_NMDs 41.21 ± 7.718 78.43 ± 10.145

Clusters Details

In this section we include OMIM neuromuscular cluster’s details.

Cluster *55

HPO Cluster Description
HP:0003323 55 Progressive muscle weakness
HP:0003688 55 Cytochrome C oxidase-negative muscle fibers
HP:0001924 55 Sideroblastic anemia
HP:0009055 55 Generalized limb muscle atrophy
Cluster Cell function Description Phenotype_coverage Genes
55 GO:0000959 mitochondrial RNA metabolic process 100 TRNT1, TWNK, YARS2, PUS1
55 GO:0140053 mitochondrial gene expression 75 YARS2, LARS2, TWNK, PUS1, TRNT1, FASTKD2

Cluster *146

HPO Cluster Description
HP:0003198 146 Myopathy
HP:0001427 146 Mitochondrial inheritance
HP:0000576 146 Centrocecal scotoma
HP:0003752 146 Episodic flaccid weakness
Cluster Cell function Description Phenotype_coverage Genes
146 hsa05010 Alzheimer’s disease 100 COX1, NDUFS4, SDHA, COX8A, COX6B1, COX3, CACNA1S, CYTB, ATP6, COX2
146 hsa04260 Cardiac muscle contraction 100 COX1, COX8A, COX6B1, COX3, CACNA1S, CYTB, COX2
146 hsa00190 Oxidative phosphorylation 75 COX10, ND2, ND1, COX1, ND5, SDHA, COX15, NDUFS4, ND4L, COX8A, COX6B1, ND4, COX3, CYTB, ND6, ATP6, COX2
146 hsa05016 Huntington’s disease 75 COX1, NDUFS4, SDHA, COX8A, COX6B1, COX3, CYTB, ATP6, COX2
146 hsa05012 Parkinson’s disease 75 ND2, ND1, COX1, ND5, SDHA, NDUFS4, ND4L, COX8A, COX6B1, ND4, COX3, CYTB, ND6, ATP6, COX2
146 GO:0006979 response to oxidative stress 75 COX1, ND6, ND1, ND5
146 GO:0006120 mitochondrial electron transport, NADH to ubiquinone 75 NDUFS4, ND4, ND6, ND4L, ND5, ND2, ND1
146 GO:0046677 response to antibiotic 75 ND4, ND6, ND5, CYTB, OPA1
146 GO:0006123 mitochondrial electron transport, cytochrome c to oxygen 75 COX10, COX1, COX3, COX8A, COX2, COX15, COX6B1
146 GO:0008535 respiratory chain complex IV assembly 75 SCO1, COX10, SURF1, PET100, COX20, COX14, COX15, BCS1L, COX3
146 GO:0032981 mitochondrial respiratory chain complex I assembly 75 NDUFS4, ND4, ND6, ND5, ND2, BCS1L, ND1
146 GO:0055093 response to hyperoxia 75 ATP6, CYTB
146 GO:0009205 purine ribonucleoside triphosphate metabolic process 75 NDUFS4, COX6B1, ATP6, COX10, COX1, SURF1, ND1, SDHA, ND4, ND6, COX8A, ND4L, COX15, ND5, COX2, ND2, CYTB, OPA1, COX3
146 GO:1902600 proton transmembrane transport 75 COX6B1, COX10, ATP6, COX1, SURF1, ND4, COX8A, COX2, COX15, CYTB, COX3
146 GO:0009167 purine ribonucleoside monophosphate metabolic process 75 NDUFS4, COX6B1, ATP6, COX10, COX1, SURF1, ND1, SDHA, ND4, ND6, COX8A, ND4L, COX15, ND5, COX2, ND2, CYTB, COX3
146 GO:0035094 response to nicotine 75 ND4, ND6, CHRNB1
146 R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 75 ATP6, COX1, COX6B1, CYTB, ND5, NDUFS4, SDHA, ND6, ND4, COX14, COX20, COX2, SURF1, COX3, TACO1, ND2, ND1, COX8A, SCO1
146 R-HSA-6799198 Complex I biogenesis 75 NDUFS4, ND5, ND6, ND4, ND2, ND1
146 R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport 75 ATP6, COX1, COX6B1, CYTB, ND5, NDUFS4, SDHA, ND6, ND4, COX14, COX20, COX2, SURF1, COX3, TACO1, ND2, ND1, COX8A, SCO1
146 R-HSA-611105 Respiratory electron transport 75 COX1, COX6B1, CYTB, ND5, NDUFS4, SDHA, ND6, ND4, COX14, COX20, COX2, SURF1, COX3, TACO1, ND2, ND1, COX8A, SCO1

Cluster *97

HPO Cluster Description
HP:0001612 97 Weak cry
HP:0003554 97 Type 2 muscle fiber atrophy
HP:0002033 97 Poor suck
HP:0002715 97 Abnormality of the immune system
HP:0000597 97 Ophthalmoparesis
HP:0002872 97 Apneic episodes precipitated by illness, fatigue, stress
HP:0002882 97 Sudden episodic apnea
HP:0003397 97 Generalized hypotonia due to defect at the neuromuscular junction
HP:0003402 97 Decreased miniature endplate potentials
HP:0003403 97 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 97 Fatigable weakness
HP:0003436 97 Prolonged miniature endplate currents
HP:0003443 97 Decreased size of nerve terminals
Cluster Cell function Description Phenotype_coverage Genes
97 GO:0007271 synaptic transmission, cholinergic 92.30769 CHRNE, SLC5A7, CHRNA1, COLQ
97 GO:0007274 neuromuscular synaptic transmission 92.30769 CHAT, CHRNE, SLC5A7, CHRNA1
97 GO:0035094 response to nicotine 84.61538 CHRNE, CHRNA1
97 R-HSA-112315 Transmission across Chemical Synapses 84.61538 CHRNA1, CHAT, CHRNE, SLC5A7
97 R-HSA-622327 Postsynaptic nicotinic acetylcholine receptors 84.61538 CHRNA1, CHRNE
97 R-HSA-181431 Acetylcholine binding and downstream events 84.61538 CHRNA1, CHRNE
97 R-HSA-622323 Presynaptic nicotinic acetylcholine receptors 84.61538 CHRNA1, CHRNE
97 R-HSA-112316 Neuronal System 84.61538 CHRNA1, CHAT, CHRNE, SLC5A7
97 R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle 76.92308 CHAT, SLC5A7

Cluster *3

HPO Cluster Description
HP:0009830 3 Peripheral neuropathy
HP:0001265 3 Hyporeflexia
HP:0001761 3 Pes cavus
HP:0003693 3 Distal amyotrophy
HP:0001178 3 Ulnar claw
HP:0001284 3 Areflexia
HP:0001765 3 Hammertoe
HP:0002460 3 Distal muscle weakness
HP:0002936 3 Distal sensory impairment
HP:0003376 3 Steppage gait
HP:0003380 3 Decreased number of peripheral myelinated nerve fibers
HP:0003382 3 Hypertrophic nerve changes
HP:0003383 3 Onion bulb formation
HP:0003431 3 Decreased motor nerve conduction velocity
HP:0003449 3 Cold-induced muscle cramps
HP:0004336 3 Myelin outfoldings
HP:0009027 3 Foot dorsiflexor weakness
HP:0003481 3 Segmental peripheral demyelination/remyelination
HP:0003387 3 Decreased number of large peripheral myelinated nerve fibers
HP:0003484 3 Upper limb muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
3 GO:0042552 myelination 90 SBF2, SH3TC2, MPZ, MTMR2, ARHGEF10, EGR2, PSAP, SOX10, FAM126A, NDRG1, PMP22, DHH

Cluster *91

HPO Cluster Description
HP:0007240 91 Progressive gait ataxia
HP:0004389 91 Intestinal pseudo-obstruction
HP:0004395 91 Malnutrition
HP:0003548 91 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 91 Cytochrome C oxidase-negative muscle fibers
HP:0003713 91 Muscle fiber necrosis
HP:0006886 91 Impaired distal vibration sensation
HP:0002403 91 Positive Romberg sign
HP:0003434 91 Sensory ataxic neuropathy
Cluster Cell function Description Phenotype_coverage Genes
91 GO:0071333 cellular response to glucose stimulus 88.88889 TWNK, POLG
91 GO:0032042 mitochondrial DNA metabolic process 88.88889 POLG2, POLG, TWNK
91 GO:0006264 mitochondrial DNA replication 88.88889 POLG2, POLG, TWNK
91 GO:0034214 protein hexamerization 77.77778 TWNK
91 GO:0006268 DNA unwinding involved in DNA replication 77.77778 TWNK
91 GO:0055093 response to hyperoxia 77.77778 POLG
91 GO:0006390 mitochondrial transcription 77.77778 TWNK

Cluster *193

HPO Cluster Description
HP:0003326 193 Myalgia
HP:0003712 193 Skeletal muscle hypertrophy
HP:0003552 193 Muscle stiffness
HP:0003730 193 EMG: myotonic runs
HP:0003740 193 Myotonia with warm-up phenomenon
HP:0010548 193 Percussion myotonia
HP:0012899 193 Handgrip myotonia
HP:0025605 193 Lid lag on downgaze
HP:0005348 193 Inspiratory stridor
Cluster Cell function Description Phenotype_coverage Genes
193 GO:0003012 muscle system process 88.88889 MYOT, CLCN1, TNFRSF1A, SCN4A, CCDC78, MSTN, CASQ1
193 GO:0019226 transmission of nerve impulse 77.77778 CLCN1, SCN4A

Cluster *82

HPO Cluster Description
HP:0002398 82 Degeneration of anterior horn cells
HP:0002522 82 Areflexia of lower limbs
HP:0003445 82 EMG: neuropathic changes
HP:0007269 82 Spinal muscular atrophy
HP:0001308 82 Tongue fasciculations
HP:0002378 82 Hand tremor
HP:0003457 82 EMG abnormality
Cluster Cell function Description Phenotype_coverage Genes
82 R-HSA-194441 Metabolism of non-coding RNA 85.71429 SMN1, SMN2
82 R-HSA-191859 snRNP Assembly 85.71429 SMN1, SMN2

Cluster *138

HPO Cluster Description
HP:0008955 138 Progressive distal muscular atrophy
HP:0003697 138 Scapuloperoneal amyotrophy
HP:0007178 138 Motor polyneuropathy
HP:0009063 138 Progressive distal muscle weakness
HP:0009113 138 Diaphragmatic weakness
HP:0010307 138 Stridor
HP:0011349 138 Abducens palsy
Cluster Cell function Description Phenotype_coverage Genes
138 GO:0006884 cell volume homeostasis 85.71429 TRPV4, SLC12A6
138 GO:0006971 hypotonic response 85.71429 TRPV4, SLC12A6
138 GO:0071472 cellular response to salt stress 85.71429 TRPV4, SLC12A6
138 GO:2000778 positive regulation of interleukin-6 secretion 71.42857 TRPV4
138 GO:0050891 multicellular organismal water homeostasis 71.42857 TRPV4
138 GO:0045599 negative regulation of fat cell differentiation 71.42857 TRPV4
138 GO:0043457 regulation of cellular respiration 71.42857 TRPV4
138 GO:0070509 calcium ion import 71.42857 TRPV4
138 GO:0097009 energy homeostasis 71.42857 TRPV4
138 GO:0030865 cortical cytoskeleton organization 71.42857 TRPV4
138 GO:0071639 positive regulation of monocyte chemotactic protein-1 production 71.42857 TRPV4
138 GO:0043117 positive regulation of vascular permeability 71.42857 TRPV4
138 GO:1901881 positive regulation of protein depolymerization 71.42857 TRPV4
138 GO:0010759 positive regulation of macrophage chemotaxis 71.42857 TRPV4
138 GO:0071609 chemokine (C-C motif) ligand 5 production 71.42857 TRPV4
138 GO:0047484 regulation of response to osmotic stress 71.42857 TRPV4
138 GO:0042538 hyperosmotic salinity response 71.42857 TRPV4
138 GO:0031122 cytoplasmic microtubule organization 71.42857 TRPV4
138 GO:0031532 actin cytoskeleton reorganization 71.42857 TRPV4
138 GO:0046785 microtubule polymerization 71.42857 TRPV4
138 GO:0090335 regulation of brown fat cell differentiation 71.42857 TRPV4
138 GO:0002024 diet induced thermogenesis 71.42857 TRPV4
138 GO:0031114 regulation of microtubule depolymerization 71.42857 TRPV4
138 GO:0060351 cartilage development involved in endochondral bone morphogenesis 71.42857 TRPV4
138 GO:0031112 positive regulation of microtubule polymerization or depolymerization 71.42857 TRPV4
138 R-HSA-3295583 TRP channels 71.42857 TRPV4

Cluster *58

HPO Cluster Description
HP:0001638 58 Cardiomyopathy
HP:0000158 58 Macroglossia
HP:0003701 58 Proximal muscle weakness
HP:0003560 58 Muscular dystrophy
HP:0001321 58 Cerebellar hypoplasia
HP:0002111 58 Restrictive deficit on pulmonary function testing
HP:0003547 58 Shoulder girdle muscle weakness
HP:0008981 58 Calf muscle hypertrophy
HP:0001771 58 Achilles tendon contracture
HP:0003741 58 Congenital muscular dystrophy
HP:0007033 58 Cerebellar dysplasia
HP:0002350 58 Cerebellar cyst
HP:0003733 58 Thigh hypertrophy
Cluster Cell function Description Phenotype_coverage Genes
58 GO:0035269 protein O-linked mannosylation 84.61538 POMT1, RXYLT1, LARGE1, CRPPA, FKRP, POMGNT2, POMT2, FKTN

Cluster *1

HPO Cluster Description
HP:0001302 1 Pachygyria
HP:0001321 1 Cerebellar hypoplasia
HP:0002500 1 Abnormality of the cerebral white matter
HP:0002365 1 Hypoplasia of the brainstem
HP:0007260 1 Type II lissencephaly
HP:0031882 1 Agyria
Cluster Cell function Description Phenotype_coverage Genes
1 GO:0035269 protein O-linked mannosylation 83.33333 POMT1, TMTC3, LARGE1, RXYLT1, CRPPA, FKRP, B4GAT1, POMGNT2, POMT2, FKTN
1 GO:0060049 regulation of protein glycosylation 83.33333 POMT2, POMT1, FKTN
1 R-HSA-5173105 O-linked glycosylation 83.33333 LARGE1, DAG1, B4GAT1, POMT2, B3GALNT2, POMGNT2, POMGNT1, POMT1, POMK
1 R-HSA-3906995 Diseases associated with O-glycosylation of proteins 83.33333 LARGE1, DAG1, B4GAT1, POMT2, POMGNT1, POMT1
1 R-HSA-3781865 Diseases of glycosylation 83.33333 LARGE1, DAG1, B4GAT1, POMT2, POMGNT1, POMT1

Cluster *89

HPO Cluster Description
HP:0003470 89 Paralysis
HP:0002522 89 Areflexia of lower limbs
HP:0002600 89 Hyporeflexia of lower limbs
HP:0002601 89 Paresis of extensor muscles of the big toe
HP:0003445 89 EMG: neuropathic changes
HP:0009053 89 Distal lower limb muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
89 GO:0006986 response to unfolded protein 83.33333 VAPB, HSPB1, HSPB8, HSPB3

Cluster *211

HPO Cluster Description
HP:0006466 211 Ankle flexion contracture
HP:0003306 211 Spinal rigidity
HP:0003741 211 Congenital muscular dystrophy
HP:0007103 211 Hypointensity of cerebral white matter on MRI
HP:0100297 211 Increased endomysial connective tissue
HP:0003719 211 Muscle mounding
Cluster Cell function Description Phenotype_coverage Genes
211 hsa04510 Focal adhesion 83.33333 COL6A3, COL6A1, LAMA2, ITGA7, COL6A2, CAV3
211 R-HSA-3000178 ECM proteoglycans 83.33333 COL6A1, LAMA2, DAG1, COL6A2, ITGA7, COL6A3

Cluster *85

HPO Cluster Description
HP:0001605 85 Vocal cord paralysis
HP:0009113 85 Diaphragmatic weakness
HP:0009130 85 Hand muscle atrophy
HP:0002877 85 Nocturnal hypoventilation
HP:0030237 85 Hand muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
85 hsa04977 Vitamin digestion and absorption 80 SLC52A3

Cluster *105

HPO Cluster Description
HP:0003555 105 Muscle fiber splitting
HP:0009054 105 Scapuloperoneal myopathy
HP:0000759 105 Abnormal peripheral nervous system morphology
HP:0003715 105 Myofibrillar myopathy
HP:0100303 105 Muscle fiber cytoplasmatic inclusion bodies
Cluster Cell function Description Phenotype_coverage Genes
105 GO:0048747 muscle fiber development 80 KLHL40, DYSF, TTN, FLNC

Cluster *128

HPO Cluster Description
HP:0001762 128 Talipes equinovarus
HP:0002751 128 Kyphoscoliosis
HP:0003803 128 Type 1 muscle fiber predominance
HP:0003044 128 Shoulder flexion contracture
HP:0002047 128 Malignant hyperthermia
Cluster Cell function Description Phenotype_coverage Genes
128 R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism 80 B3GALT6, HSPG2, SLC26A2, CHST3
128 R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism 80 B3GALT6, HSPG2, CHST3
128 R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1 80 B3GALT6, HSPG2
128 R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis 80 B3GALT6, HSPG2

Cluster *219

HPO Cluster Description
HP:0003676 219 Progressive
HP:0003737 219 Mitochondrial myopathy
HP:0004395 219 Malnutrition
HP:0000590 219 Progressive external ophthalmoplegia
HP:0003548 219 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 219 Cytochrome C oxidase-negative muscle fibers
HP:0003434 219 Sensory ataxic neuropathy
HP:0002579 219 Gastrointestinal dysmotility
HP:0007103 219 Hypointensity of cerebral white matter on MRI
HP:0004326 219 Cachexia
Cluster Cell function Description Phenotype_coverage Genes
219 GO:0006264 mitochondrial DNA replication 80 MGME1, POLG, RRM2B, TWNK, DNA2, POLG2
219 GO:0032042 mitochondrial DNA metabolic process 70 MGME1, POLG, RRM2B, TWNK, DNA2, TOP3A, POLG2
219 R-HSA-73614 Pyrimidine salvage 70 TK2, TYMP
219 R-HSA-73621 Pyrimidine catabolism 70 TYMP

Cluster *26

HPO Cluster Description
HP:0000158 26 Macroglossia
HP:0011675 26 Arrhythmia
HP:0003701 26 Proximal muscle weakness
HP:0001644 26 Dilated cardiomyopathy
HP:0005162 26 Left ventricular dysfunction
HP:0002877 26 Nocturnal hypoventilation
HP:0003741 26 Congenital muscular dystrophy
HP:0032341 26 Reduced forced vital capacity
HP:0003733 26 Thigh hypertrophy
Cluster Cell function Description Phenotype_coverage Genes
26 GO:0035269 protein O-linked mannosylation 77.77778 POMT1, LARGE1, CRPPA, FKRP, POMT2, FKTN

Cluster *4

HPO Cluster Description
HP:0009830 4 Peripheral neuropathy
HP:0002751 4 Kyphoscoliosis
HP:0001171 4 Split hand
HP:0001265 4 Hyporeflexia
HP:0001761 4 Pes cavus
HP:0003693 4 Distal amyotrophy
HP:0003690 4 Limb muscle weakness
HP:0001178 4 Ulnar claw
HP:0001284 4 Areflexia
HP:0002936 4 Distal sensory impairment
HP:0003376 4 Steppage gait
HP:0003380 4 Decreased number of peripheral myelinated nerve fibers
HP:0003383 4 Onion bulb formation
HP:0003431 4 Decreased motor nerve conduction velocity
HP:0003449 4 Cold-induced muscle cramps
HP:0004336 4 Myelin outfoldings
HP:0009027 4 Foot dorsiflexor weakness
HP:0011096 4 Peripheral demyelination
HP:0003387 4 Decreased number of large peripheral myelinated nerve fibers
HP:0007182 4 Peripheral hypomyelination
Cluster Cell function Description Phenotype_coverage Genes
4 GO:0042552 myelination 75 SBF2, MPZ, MTMR2, ARHGEF10, FIG4, EGR2, KCNJ10, PSAP, SOX10, FAM126A, NDRG1, GALC, PMP22, DHH

Cluster *6

HPO Cluster Description
HP:0001561 6 Polyhydramnios
HP:0001611 6 Nasal speech
HP:0010628 6 Facial palsy
HP:0001371 6 Flexion contracture
HP:0003324 6 Generalized muscle weakness
HP:0003798 6 Nemaline bodies
HP:0001533 6 Slender build
HP:0003810 6 Late-onset distal muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
6 GO:0048747 muscle fiber development 75 LMOD3, NEB, ACTA1, KLHL40, SELENON, MYO18B, ZMPSTE24, RYR1
6 GO:0051146 striated muscle cell differentiation 75 LMOD3, NEB, MYPN, CFL2, ACTA1, KLHL40, SELENON, MYO18B, LMNA, ZMPSTE24, RYR1, TNNT1, TGFB1

Cluster *14

HPO Cluster Description
HP:0002486 14 Myotonia
HP:0002411 14 Myokymia
HP:0002292 14 Frontal balding
HP:0003752 14 Episodic flaccid weakness
Cluster Cell function Description Phenotype_coverage Genes
14 GO:0014819 regulation of skeletal muscle contraction 75 DMPK, SCN4A
14 R-HSA-5576891 Cardiac conduction 75 CACNA1S, DMPK, SCN4A
14 R-HSA-445095 Interaction between L1 and Ankyrins 75 SCN4A, KCNQ2
14 R-HSA-397014 Muscle contraction 75 CACNA1S, DMPK, SCN4A

Cluster *15

HPO Cluster Description
HP:0001270 15 Motor delay
HP:0000508 15 Ptosis
HP:0003701 15 Proximal muscle weakness
HP:0003307 15 Hyperlordosis
HP:0010628 15 Facial palsy
HP:0001371 15 Flexion contracture
HP:0003324 15 Generalized muscle weakness
HP:0003803 15 Type 1 muscle fiber predominance
HP:0003458 15 EMG: myopathic abnormalities
HP:0003557 15 Increased variability in muscle fiber diameter
HP:0002515 15 Waddling gait
HP:0003691 15 Scapular winging
HP:0002747 15 Respiratory insufficiency due to muscle weakness
HP:0003547 15 Shoulder girdle muscle weakness
HP:0003749 15 Pelvic girdle muscle weakness
HP:0003391 15 Gowers sign
HP:0003687 15 Centrally nucleated skeletal muscle fibers
HP:0003805 15 Rimmed vacuoles
HP:0002093 15 Respiratory insufficiency
HP:0003306 15 Spinal rigidity
HP:0003722 15 Neck flexor weakness
HP:0003810 15 Late-onset distal muscle weakness
HP:0008988 15 Pelvic girdle muscle atrophy
HP:0003731 15 Quadriceps muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
15 GO:0048747 muscle fiber development 75 SGCB, LMOD3, NEB, TCAP, ACTA1, COMP, OBSL1, SELENON, FLNC, ZMPSTE24, TTN, RYR1

Cluster *72

HPO Cluster Description
HP:0003674 72 Onset
HP:0007141 72 Sensorimotor neuropathy
HP:0003392 72 First dorsal interossei muscle weakness
HP:0003426 72 First dorsal interossei muscle atrophy
HP:0003427 72 Thenar muscle weakness
HP:0003435 72 Cold-induced hand cramps
HP:0003484 72 Upper limb muscle weakness
HP:0009129 72 Upper limb amyotrophy
Cluster Cell function Description Phenotype_coverage Genes
72 hsa00970 Aminoacyl-tRNA biosynthesis 75 GARS1, YARS1
72 GO:0006418 tRNA aminoacylation for protein translation 75 YARS1, GARS1
72 R-HSA-379724 tRNA Aminoacylation 75 YARS1, GARS1
72 R-HSA-379726 Mitochondrial tRNA aminoacylation 75 GARS1
72 R-HSA-72766 Translation 75 YARS1, GARS1
72 R-HSA-379716 Cytosolic tRNA aminoacylation 75 YARS1, GARS1

Cluster *80

HPO Cluster Description
HP:0006597 80 Diaphragmatic paralysis
HP:0007108 80 Demyelinating peripheral neuropathy
HP:0032341 80 Reduced forced vital capacity
HP:0003715 80 Myofibrillar myopathy
Cluster Cell function Description Phenotype_coverage Genes
80 GO:0046716 muscle cell cellular homeostasis 75 BAG3, GAA, CFL2

Cluster *125

HPO Cluster Description
HP:0001349 125 Facial diplegia
HP:0003554 125 Type 2 muscle fiber atrophy
HP:0002292 125 Frontal balding
HP:0003722 125 Neck flexor weakness
Cluster Cell function Description Phenotype_coverage Genes
125 R-HSA-397014 Muscle contraction 75 DMPK, TPM3, TPM2, NEB, ACTA1

Cluster *131

HPO Cluster Description
HP:0006958 131 Abnormal auditory evoked potentials
HP:0001963 131 Abnormal speech discrimination
HP:0004463 131 Absent brainstem auditory responses
HP:0008529 131 Absence of acoustic reflex
Cluster Cell function Description Phenotype_coverage Genes
131 GO:0051258 protein polymerization 75 DIAPH3, OPA1

Cluster *201

HPO Cluster Description
HP:0001425 201 Heterogeneous
HP:0003324 201 Generalized muscle weakness
HP:0003798 201 Nemaline bodies
HP:0003803 201 Type 1 muscle fiber predominance
HP:0003458 201 EMG: myopathic abnormalities
HP:0001427 201 Mitochondrial inheritance
HP:0003688 201 Cytochrome C oxidase-negative muscle fibers
HP:0003810 201 Late-onset distal muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
201 GO:0048747 muscle fiber development 75 LMOD3, NEB, ACTA1, KLHL40, SELENON, MYO18B, ZMPSTE24, TTN, RYR1
201 GO:0014706 striated muscle tissue development 75 MYH7, LMOD3, NEB, EGR2, MTM1, CHRNA1, CFL2, ACTA1, KLHL40, SELENON, MYO18B, LMNA, ZMPSTE24, TTN, RYR1
201 GO:0030049 muscle filament sliding 75 MYH7, NEB, TPM3, ACTA1, TPM2, MYH2, TTN, MYL1, TNNT1
201 R-HSA-390522 Striated Muscle Contraction 75 TPM3, TTN, MYL1, TPM2, NEB, TNNT1, ACTA1
201 R-HSA-397014 Muscle contraction 75 TPM3, KCNQ1, TTN, MYL1, TPM2, NEB, FXYD2, TNNT1, ACTA1, KCNE1, RYR1

Cluster *218

HPO Cluster Description
HP:0003546 218 Exercise intolerance
HP:0001992 218 Organic aciduria
HP:0012548 218 Fatty replacement of skeletal muscle
HP:0008322 218 Abnormal mitochondrial morphology
Cluster Cell function Description Phenotype_coverage Genes
218 GO:0009165 nucleotide biosynthetic process 75 FLAD1, MPC1, ATP5F1D, LDHA, TAZ, PGAM2, PGM1, PFKM, PGK1, ENO3
218 GO:0006732 coenzyme metabolic process 75 FLAD1, MPC1, LDHA, PGAM2, PFKM, BTD, PGM1, COQ8A, MCCC2, SLC25A32, PGK1, HLCS, ENO3

Cluster *228

HPO Cluster Description
HP:0001171 228 Split hand
HP:0001425 228 Heterogeneous
HP:0001265 228 Hyporeflexia
HP:0003477 228 Peripheral axonal neuropathy
HP:0001761 228 Pes cavus
HP:0003693 228 Distal amyotrophy
HP:0001178 228 Ulnar claw
HP:0001284 228 Areflexia
HP:0001765 228 Hammertoe
HP:0002460 228 Distal muscle weakness
HP:0002936 228 Distal sensory impairment
HP:0003376 228 Steppage gait
HP:0003380 228 Decreased number of peripheral myelinated nerve fibers
HP:0003382 228 Hypertrophic nerve changes
HP:0003383 228 Onion bulb formation
HP:0003431 228 Decreased motor nerve conduction velocity
HP:0003449 228 Cold-induced muscle cramps
HP:0003621 228 Juvenile onset
HP:0004336 228 Myelin outfoldings
HP:0009027 228 Foot dorsiflexor weakness
HP:0003378 228 Axonal degeneration/regeneration
HP:0003384 228 Peripheral axonal atrophy
HP:0003481 228 Segmental peripheral demyelination/remyelination
HP:0003484 228 Upper limb muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
228 GO:0042552 myelination 75 SBF2, SH3TC2, MPZ, MTMR2, ARHGEF10, EGR2, PSAP, SOX10, FAM126A, NDRG1, PMP22, DHH

Cluster *200

HPO Cluster Description
HP:0001425 200 Heterogeneous
HP:0001291 200 Abnormal cranial nerve morphology
HP:0040078 200 Axonal degeneration
HP:0001761 200 Pes cavus
HP:0003693 200 Distal amyotrophy
HP:0001178 200 Ulnar claw
HP:0001284 200 Areflexia
HP:0002460 200 Distal muscle weakness
HP:0002936 200 Distal sensory impairment
HP:0003380 200 Decreased number of peripheral myelinated nerve fibers
HP:0003382 200 Hypertrophic nerve changes
HP:0003431 200 Decreased motor nerve conduction velocity
HP:0003481 200 Segmental peripheral demyelination/remyelination
HP:0001604 200 Vocal cord paresis
HP:0003387 200 Decreased number of large peripheral myelinated nerve fibers
HP:0003400 200 Basal lamina onion bulb formation
HP:0003484 200 Upper limb muscle weakness
HP:0007107 200 Segmental peripheral demyelination
HP:0000764 200 Peripheral axonal degeneration
Cluster Cell function Description Phenotype_coverage Genes
200 GO:0008366 axon ensheathment 73.68421 SBF2, SH3TC2, MPZ, MTMR2, EGR2, FAM126A, NDRG1, PMP22, DHH, PRX

Cluster *205

HPO Cluster Description
HP:0003198 205 Myopathy
HP:0003701 205 Proximal muscle weakness
HP:0010628 205 Facial palsy
HP:0003326 205 Myalgia
HP:0003458 205 EMG: myopathic abnormalities
HP:0003737 205 Mitochondrial myopathy
HP:0003200 205 Ragged-red muscle fibers
HP:0003557 205 Increased variability in muscle fiber diameter
HP:0001618 205 Dysphonia
HP:0003390 205 Sensory axonal neuropathy
HP:0000590 205 Progressive external ophthalmoplegia
HP:0003323 205 Progressive muscle weakness
HP:0003548 205 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 205 Cytochrome C oxidase-negative muscle fibers
HP:0003713 205 Muscle fiber necrosis
HP:0006886 205 Impaired distal vibration sensation
HP:0002403 205 Positive Romberg sign
HP:0003434 205 Sensory ataxic neuropathy
HP:0003687 205 Centrally nucleated skeletal muscle fibers
Cluster Cell function Description Phenotype_coverage Genes
205 GO:0000002 mitochondrial genome maintenance 73.68421 POLG2, MGME1, SLC25A4, POLG, MSTO1, RRM2B, TWNK, DNA2, TOP3A, TYMP

Cluster *226

HPO Cluster Description
HP:0009771 226 Osteolytic defects of the phalanges of the hand
HP:0000970 226 Anhidrosis
HP:0002754 226 Osteomyelitis
HP:0007460 226 Autoamputation of digits
HP:0002661 226 Painless fractures due to injury
HP:0007021 226 Pain insensitivity
HP:0008000 226 Decreased corneal reflex
HP:0000559 226 Corneal scarring
HP:0012804 226 Corneal ulceration
HP:0000522 226 Alacrima
HP:0000224 226 Decreased taste sensation
HP:0001069 226 Episodic hyperhidrosis
HP:0006121 226 Acral ulceration
HP:0002821 226 Neuropathic arthropathy
HP:0012211 226 Abnormal renal physiology
Cluster Cell function Description Phenotype_coverage Genes
226 GO:0019233 sensory perception of pain 73.33333 SCN11A, SCN9A, NTRK1, ZFHX2, PRDM12, RETREG1

Cluster *48

HPO Cluster Description
HP:0001324 48 Muscle weakness
HP:0000602 48 Ophthalmoplegia
HP:0003198 48 Myopathy
HP:0001639 48 Hypertrophic cardiomyopathy
HP:0003737 48 Mitochondrial myopathy
HP:0001427 48 Mitochondrial inheritance
HP:0003200 48 Ragged-red muscle fibers
HP:0003201 48 Rhabdomyolysis
HP:0003546 48 Exercise intolerance
HP:0002878 48 Respiratory failure
HP:0002490 48 Increased CSF lactate
Cluster Cell function Description Phenotype_coverage Genes
48 GO:0045333 cellular respiration 72.72727 ATP5F1D, SUCLA2, ND4, COX8A, ND4L, COX2, COX15, PDHA1, COX10, MDH2, NDUFS1, ND5, ND2, FASTKD2, CYTB, NDUFS4, COX1, COX3, ISCU, ND6, NDUFV1, NDUFB8, SURF1, SDHA, TAZ, ND1, COX6B1
48 GO:0009167 purine ribonucleoside monophosphate metabolic process 72.72727 ATP5F1D, AMPD1, ND4, PGAM2, COX8A, ND4L, COX2, COX15, PGM1, PFKM, COX10, NDUFS1, LDHA, ND5, ND2, CYTB, ENO3, NDUFS4, COX1, COX3, ISCU, ND6, NDUFV1, ATP6, NDUFB8, SURF1, SDHA, TAZ, PGK1, ND1, COX6B1
48 GO:0006119 oxidative phosphorylation 72.72727 ATP5F1D, ND4, COX8A, ND4L, COX2, COX15, COX10, NDUFS1, ND5, ND2, CYTB, NDUFS4, COX1, COX3, ISCU, ND6, NDUFV1, ATP6, NDUFB8, SURF1, SDHA, TAZ, PGK1, ND1, COX6B1
48 GO:0009205 purine ribonucleoside triphosphate metabolic process 72.72727 ATP5F1D, ND4, PGAM2, COX8A, ND4L, COX2, COX15, PGM1, PFKM, COX10, NDUFS1, LDHA, ND5, ND2, CYTB, ENO3, NDUFS4, COX1, COX3, ISCU, ND6, NDUFV1, ATP6, NDUFB8, SURF1, SDHA, TAZ, PGK1, ND1, COX6B1
48 GO:0022900 electron transport chain 72.72727 FDX2, ND4, COX8A, ND4L, COX2, COX15, COX10, NDUFS1, ND5, ND2, CYTB, NDUFS4, COX1, COX3, ISCU, ND6, NDUFV1, NDUFB8, SURF1, SDHA, TAZ, ND1, COX6B1

Cluster *115

HPO Cluster Description
HP:0002650 115 Scoliosis
HP:0001283 115 Bulbar palsy
HP:0008872 115 Feeding difficulties in infancy
HP:0010628 115 Facial palsy
HP:0003691 115 Scapular winging
HP:0000467 115 Neck muscle weakness
HP:0002093 115 Respiratory insufficiency
HP:0010307 115 Stridor
HP:0003704 115 Scapuloperoneal weakness
HP:0003697 115 Scapuloperoneal amyotrophy
HP:0009113 115 Diaphragmatic weakness
Cluster Cell function Description Phenotype_coverage Genes
115 GO:0030049 muscle filament sliding 72.72727 MYH7, NEB, DES, MYH3, TPM3, ACTA1, MYH2, TTN, MYL1

Cluster *23

HPO Cluster Description
HP:0009830 23 Peripheral neuropathy
HP:0001425 23 Heterogeneous
HP:0001265 23 Hyporeflexia
HP:0040078 23 Axonal degeneration
HP:0001761 23 Pes cavus
HP:0003677 23 Slow progression
HP:0003693 23 Distal amyotrophy
HP:0001284 23 Areflexia
HP:0001765 23 Hammertoe
HP:0002460 23 Distal muscle weakness
HP:0002936 23 Distal sensory impairment
HP:0003380 23 Decreased number of peripheral myelinated nerve fibers
HP:0003383 23 Onion bulb formation
HP:0003431 23 Decreased motor nerve conduction velocity
HP:0000764 23 Peripheral axonal degeneration
HP:0003387 23 Decreased number of large peripheral myelinated nerve fibers
HP:0003400 23 Basal lamina onion bulb formation
HP:0007107 23 Segmental peripheral demyelination
Cluster Cell function Description Phenotype_coverage Genes
23 GO:0008366 axon ensheathment 72.22222 SBF2, SH3TC2, MPZ, MTMR2, ARHGEF10, EGR2, PSAP, FAM126A, NDRG1, PMP22, DHH, PRX

Cluster *67

HPO Cluster Description
HP:0009830 67 Peripheral neuropathy
HP:0002751 67 Kyphoscoliosis
HP:0001171 67 Split hand
HP:0001265 67 Hyporeflexia
HP:0001291 67 Abnormal cranial nerve morphology
HP:0040078 67 Axonal degeneration
HP:0003693 67 Distal amyotrophy
HP:0001284 67 Areflexia
HP:0002460 67 Distal muscle weakness
HP:0002936 67 Distal sensory impairment
HP:0003382 67 Hypertrophic nerve changes
HP:0003383 67 Onion bulb formation
HP:0003431 67 Decreased motor nerve conduction velocity
HP:0004336 67 Myelin outfoldings
HP:0007267 67 Chronic axonal neuropathy
HP:0003400 67 Basal lamina onion bulb formation
HP:0007182 67 Peripheral hypomyelination
HP:0003450 67 Axonal regeneration
Cluster Cell function Description Phenotype_coverage Genes
67 GO:0042552 myelination 72.22222 SBF2, SH3TC2, MPZ, MTMR2, ARHGEF10, FIG4, EGR2, KCNJ10, PSAP, SOX10, FAM126A, NDRG1, PMP22

Cluster *53

HPO Cluster Description
HP:0000158 53 Macroglossia
HP:0003701 53 Proximal muscle weakness
HP:0010628 53 Facial palsy
HP:0001644 53 Dilated cardiomyopathy
HP:0003236 53 Elevated serum creatine kinase
HP:0002111 53 Restrictive deficit on pulmonary function testing
HP:0008981 53 Calf muscle hypertrophy
HP:0003749 53 Pelvic girdle muscle weakness
HP:0003306 53 Spinal rigidity
HP:0001771 53 Achilles tendon contracture
HP:0006785 53 Limb-girdle muscular dystrophy
HP:0032341 53 Reduced forced vital capacity
HP:0003733 53 Thigh hypertrophy
HP:0030046 53 Hypoglycosylation of alpha-dystroglycan
Cluster Cell function Description Phenotype_coverage Genes
53 GO:0035269 protein O-linked mannosylation 71.42857 POMT1, LARGE1, CRPPA, FKRP, POMGNT2, POMT2, FKTN

Cluster *184

HPO Cluster Description
HP:0003710 184 Exercise-induced muscle cramps
HP:0003712 184 Skeletal muscle hypertrophy
HP:0003552 184 Muscle stiffness
HP:0003738 184 Exercise-induced myalgia
HP:0008967 184 Exercise-induced muscle stiffness
HP:0003457 184 EMG abnormality
HP:0003719 184 Muscle mounding
Cluster Cell function Description Phenotype_coverage Genes
184 GO:0001765 membrane raft assembly 71.42857 CAV3
184 GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development 71.42857 CAV3
184 GO:0001778 plasma membrane repair 71.42857 CAV3
184 GO:0045759 negative regulation of action potential 71.42857 CAV3
184 GO:0045792 negative regulation of cell size 71.42857 CAV3
184 GO:0046716 muscle cell cellular homeostasis 71.42857 CAV3, PFKM, LAMP2, TRIM32
184 GO:0060347 heart trabecula formation 71.42857 CAV3
184 GO:0072584 caveolin-mediated endocytosis 71.42857 CAV3
184 GO:0051001 negative regulation of nitric-oxide synthase activity 71.42857 CAV3
184 GO:2000009 negative regulation of protein localization to cell surface 71.42857 CAV3

Cluster *198

HPO Cluster Description
HP:0001638 198 Cardiomyopathy
HP:0011675 198 Arrhythmia
HP:0003236 198 Elevated serum creatine kinase
HP:0003560 198 Muscular dystrophy
HP:0002522 198 Areflexia of lower limbs
HP:0003115 198 Abnormal EKG
HP:0003707 198 Calf muscle pseudohypertrophy
Cluster Cell function Description Phenotype_coverage Genes
198 hsa05410 Hypertrophic cardiomyopathy (HCM) 71.42857 DAG1, SGCG, LAMA2, PRKAG2, DMD, SGCB, TTN, MYH7
198 GO:0046716 muscle cell cellular homeostasis 71.42857 TRIM32, CAPN3, LARGE1, DMD, CAV3, LAMP2
198 GO:0007517 muscle organ development 71.42857 SGCB, MYH7, MYLK2, FHL1, LARGE1, CAPN3, FOXC2, TAZ, LAMA2, CRYAB, DMD, TTN, FKTN, SGCG, CAV3

Cluster *47

HPO Cluster Description
HP:0001265 47 Hyporeflexia
HP:0001761 47 Pes cavus
HP:0003677 47 Slow progression
HP:0001284 47 Areflexia
HP:0002460 47 Distal muscle weakness
HP:0002936 47 Distal sensory impairment
HP:0003376 47 Steppage gait
HP:0009027 47 Foot dorsiflexor weakness
HP:0002359 47 Frequent falls
HP:0007141 47 Sensorimotor neuropathy
Cluster Cell function Description Phenotype_coverage Genes
47 GO:0008366 axon ensheathment 70 SBF2, MPZ, EGR2, PSAP, PMP22, PRX

Cluster *166

HPO Cluster Description
HP:0001270 166 Motor delay
HP:0003307 166 Hyperlordosis
HP:0003324 166 Generalized muscle weakness
HP:0020152 166 Distal joint laxity
HP:0003473 166 Fatigable weakness
HP:0001612 166 Weak cry
HP:0003554 166 Type 2 muscle fiber atrophy
HP:0000597 166 Ophthalmoparesis
HP:0003436 166 Prolonged miniature endplate currents
HP:0003443 166 Decreased size of nerve terminals
Cluster Cell function Description Phenotype_coverage Genes
166 GO:0007271 synaptic transmission, cholinergic 70 CHRNE, SLC5A7, CHRNA1, COLQ
166 GO:0007528 neuromuscular junction development 70 AFG3L2, CHRNA1, COLQ

Cluster *2

HPO Cluster Description
HP:0008000 2 Decreased corneal reflex
HP:0003387 2 Decreased number of large peripheral myelinated nerve fibers
HP:0000224 2 Decreased taste sensation
HP:0001069 2 Episodic hyperhidrosis
HP:0002821 2 Neuropathic arthropathy
HP:0012211 2 Abnormal renal physiology

Cluster *5

HPO Cluster Description
HP:0001302 5 Pachygyria
HP:0001270 5 Motor delay
HP:0003593 5 Infantile onset
HP:0008872 5 Feeding difficulties in infancy

Cluster *7

HPO Cluster Description
HP:0001271 7 Polyneuropathy
HP:0000970 7 Anhidrosis
HP:0006958 7 Abnormal auditory evoked potentials
HP:0000762 7 Decreased nerve conduction velocity

Cluster *8

HPO Cluster Description
HP:0003828 8 Variable expressivity
HP:0003202 8 Skeletal muscle atrophy
HP:0003677 8 Slow progression
HP:0003325 8 Limb-girdle muscle weakness
HP:0003690 8 Limb muscle weakness
HP:0003701 8 Proximal muscle weakness
HP:0001371 8 Flexion contracture
HP:0003326 8 Myalgia
HP:0003458 8 EMG: myopathic abnormalities
HP:0003546 8 Exercise intolerance
HP:0003691 8 Scapular winging
HP:0002355 8 Difficulty walking
HP:0002747 8 Respiratory insufficiency due to muscle weakness
HP:0003391 8 Gowers sign
HP:0008180 8 Mildly elevated creatine kinase
HP:0003306 8 Spinal rigidity

Cluster *9

HPO Cluster Description
HP:0001324 9 Muscle weakness
HP:0003198 9 Myopathy
HP:0003701 9 Proximal muscle weakness
HP:0010628 9 Facial palsy
HP:0001644 9 Dilated cardiomyopathy
HP:0003324 9 Generalized muscle weakness
HP:0003803 9 Type 1 muscle fiber predominance
HP:0003458 9 EMG: myopathic abnormalities
HP:0003560 9 Muscular dystrophy
HP:0003200 9 Ragged-red muscle fibers
HP:0003201 9 Rhabdomyolysis
HP:0003546 9 Exercise intolerance
HP:0003557 9 Increased variability in muscle fiber diameter
HP:0002515 9 Waddling gait
HP:0008981 9 Calf muscle hypertrophy
HP:0003687 9 Centrally nucleated skeletal muscle fibers
HP:0008180 9 Mildly elevated creatine kinase
HP:0003306 9 Spinal rigidity
HP:0003741 9 Congenital muscular dystrophy

Cluster *10

HPO Cluster Description
HP:0001638 10 Cardiomyopathy
HP:0003581 10 Adult onset
HP:0001324 10 Muscle weakness
HP:0003198 10 Myopathy
HP:0003701 10 Proximal muscle weakness
HP:0001371 10 Flexion contracture
HP:0003326 10 Myalgia
HP:0003458 10 EMG: myopathic abnormalities
HP:0003560 10 Muscular dystrophy
HP:0003546 10 Exercise intolerance
HP:0000590 10 Progressive external ophthalmoplegia
HP:0003548 10 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 10 Cytochrome C oxidase-negative muscle fibers
HP:0006886 10 Impaired distal vibration sensation

Cluster *11

HPO Cluster Description
HP:0003198 11 Myopathy
HP:0003325 11 Limb-girdle muscle weakness
HP:0003691 11 Scapular winging
HP:0008981 11 Calf muscle hypertrophy
HP:0003805 11 Rimmed vacuoles
HP:0008180 11 Mildly elevated creatine kinase
HP:0006785 11 Limb-girdle muscular dystrophy
HP:0030046 11 Hypoglycosylation of alpha-dystroglycan

Cluster *12

HPO Cluster Description
HP:0001638 12 Cardiomyopathy
HP:0003326 12 Myalgia
HP:0003458 12 EMG: myopathic abnormalities
HP:0003560 12 Muscular dystrophy
HP:0003737 12 Mitochondrial myopathy
HP:0012378 12 Fatigue
HP:0003200 12 Ragged-red muscle fibers
HP:0003201 12 Rhabdomyolysis
HP:0003546 12 Exercise intolerance
HP:0000590 12 Progressive external ophthalmoplegia
HP:0003323 12 Progressive muscle weakness
HP:0003551 12 Difficulty climbing stairs

Cluster *13

HPO Cluster Description
HP:0000007 13 Autosomal recessive inheritance
HP:0000508 13 Ptosis
HP:0002650 13 Scoliosis
HP:0003202 13 Skeletal muscle atrophy
HP:0003676 13 Progressive
HP:0001283 13 Bulbar palsy
HP:0002015 13 Dysphagia
HP:0003701 13 Proximal muscle weakness
HP:0010628 13 Facial palsy
HP:0011968 13 Feeding difficulties
HP:0001308 13 Tongue fasciculations
HP:0000467 13 Neck muscle weakness
HP:0002093 13 Respiratory insufficiency
HP:0002058 13 Myopathic facies

Cluster *16

HPO Cluster Description
HP:0009830 16 Peripheral neuropathy
HP:0001171 16 Split hand
HP:0003581 16 Adult onset
HP:0001265 16 Hyporeflexia
HP:0003477 16 Peripheral axonal neuropathy
HP:0002380 16 Fasciculations
HP:0040078 16 Axonal degeneration
HP:0001761 16 Pes cavus
HP:0003677 16 Slow progression
HP:0003693 16 Distal amyotrophy
HP:0001284 16 Areflexia
HP:0001765 16 Hammertoe
HP:0002460 16 Distal muscle weakness
HP:0002936 16 Distal sensory impairment
HP:0003376 16 Steppage gait
HP:0003380 16 Decreased number of peripheral myelinated nerve fibers
HP:0003383 16 Onion bulb formation
HP:0003431 16 Decreased motor nerve conduction velocity
HP:0002355 16 Difficulty walking
HP:0003387 16 Decreased number of large peripheral myelinated nerve fibers

Cluster *17

HPO Cluster Description
HP:0003581 17 Adult onset
HP:0003325 17 Limb-girdle muscle weakness
HP:0003458 17 EMG: myopathic abnormalities
HP:0002747 17 Respiratory insufficiency due to muscle weakness
HP:0003547 17 Shoulder girdle muscle weakness
HP:0003749 17 Pelvic girdle muscle weakness
HP:0003805 17 Rimmed vacuoles
HP:0003810 17 Late-onset distal muscle weakness
HP:0003736 17 Autophagic vacuoles
HP:0003555 17 Muscle fiber splitting
HP:0009025 17 Increased connective tissue
HP:0003715 17 Myofibrillar myopathy

Cluster *18

HPO Cluster Description
HP:0009830 18 Peripheral neuropathy
HP:0003828 18 Variable expressivity
HP:0003202 18 Skeletal muscle atrophy
HP:0003676 18 Progressive
HP:0003581 18 Adult onset
HP:0003477 18 Peripheral axonal neuropathy
HP:0001761 18 Pes cavus
HP:0003677 18 Slow progression
HP:0003693 18 Distal amyotrophy
HP:0002936 18 Distal sensory impairment
HP:0003390 18 Sensory axonal neuropathy
HP:0007340 18 Lower limb muscle weakness
HP:0002355 18 Difficulty walking
HP:0003484 18 Upper limb muscle weakness

Cluster *19

HPO Cluster Description
HP:0003202 19 Skeletal muscle atrophy
HP:0001324 19 Muscle weakness
HP:0003394 19 Muscle spasm
HP:0007354 19 Amyotrophic lateral sclerosis
HP:0003470 19 Paralysis
HP:0002355 19 Difficulty walking

Cluster *20

HPO Cluster Description
HP:0001762 20 Talipes equinovarus
HP:0001270 20 Motor delay
HP:0000508 20 Ptosis
HP:0000218 20 High palate
HP:0002650 20 Scoliosis
HP:0001611 20 Nasal speech
HP:0001319 20 Neonatal hypotonia
HP:0003557 20 Increased variability in muscle fiber diameter
HP:0003388 20 Easy fatigability
HP:0009046 20 Difficulty running
HP:0001558 20 Decreased fetal movement
HP:0007126 20 Proximal amyotrophy
HP:0003306 20 Spinal rigidity

Cluster *21

HPO Cluster Description
HP:0001425 21 Heterogeneous
HP:0001265 21 Hyporeflexia
HP:0003693 21 Distal amyotrophy
HP:0002460 21 Distal muscle weakness
HP:0002936 21 Distal sensory impairment
HP:0003431 21 Decreased motor nerve conduction velocity
HP:0003387 21 Decreased number of large peripheral myelinated nerve fibers
HP:0003484 21 Upper limb muscle weakness
HP:0003450 21 Axonal regeneration

Cluster *22

HPO Cluster Description
HP:0001270 22 Motor delay
HP:0001283 22 Bulbar palsy
HP:0003701 22 Proximal muscle weakness
HP:0003307 22 Hyperlordosis
HP:0010628 22 Facial palsy
HP:0001319 22 Neonatal hypotonia
HP:0001371 22 Flexion contracture
HP:0003324 22 Generalized muscle weakness
HP:0003798 22 Nemaline bodies
HP:0003803 22 Type 1 muscle fiber predominance
HP:0003458 22 EMG: myopathic abnormalities
HP:0003557 22 Increased variability in muscle fiber diameter
HP:0002515 22 Waddling gait
HP:0003749 22 Pelvic girdle muscle weakness
HP:0003805 22 Rimmed vacuoles
HP:0002058 22 Myopathic facies
HP:0003722 22 Neck flexor weakness
HP:0003810 22 Late-onset distal muscle weakness
HP:0003551 22 Difficulty climbing stairs
HP:0000597 22 Ophthalmoparesis
HP:0003473 22 Fatigable weakness

Cluster *24

HPO Cluster Description
HP:0002650 24 Scoliosis
HP:0003198 24 Myopathy
HP:0003236 24 Elevated serum creatine kinase
HP:0003557 24 Increased variability in muscle fiber diameter
HP:0003741 24 Congenital muscular dystrophy
HP:0012548 24 Fatty replacement of skeletal muscle

Cluster *25

HPO Cluster Description
HP:0001270 25 Motor delay
HP:0001425 25 Heterogeneous
HP:0001265 25 Hyporeflexia
HP:0001761 25 Pes cavus
HP:0003383 25 Onion bulb formation
HP:0009027 25 Foot dorsiflexor weakness
HP:0008180 25 Mildly elevated creatine kinase
HP:0008944 25 Distal lower limb amyotrophy

Cluster *27

HPO Cluster Description
HP:0001638 27 Cardiomyopathy
HP:0000518 27 Cataract
HP:0011675 27 Arrhythmia
HP:0003200 27 Ragged-red muscle fibers
HP:0003548 27 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 27 Cytochrome C oxidase-negative muscle fibers

Cluster *28

HPO Cluster Description
HP:0001270 28 Motor delay
HP:0000508 28 Ptosis
HP:0003202 28 Skeletal muscle atrophy
HP:0001324 28 Muscle weakness
HP:0001561 28 Polyhydramnios
HP:0001371 28 Flexion contracture
HP:0002047 28 Malignant hyperthermia

Cluster *29

HPO Cluster Description
HP:0001270 29 Motor delay
HP:0000218 29 High palate
HP:0003677 29 Slow progression
HP:0003701 29 Proximal muscle weakness
HP:0001611 29 Nasal speech
HP:0010628 29 Facial palsy
HP:0003324 29 Generalized muscle weakness
HP:0003798 29 Nemaline bodies
HP:0003803 29 Type 1 muscle fiber predominance
HP:0003557 29 Increased variability in muscle fiber diameter
HP:0002515 29 Waddling gait
HP:0003388 29 Easy fatigability
HP:0003691 29 Scapular winging
HP:0002359 29 Frequent falls
HP:0002355 29 Difficulty walking
HP:0008981 29 Calf muscle hypertrophy
HP:0003391 29 Gowers sign
HP:0000467 29 Neck muscle weakness
HP:0003805 29 Rimmed vacuoles
HP:0003306 29 Spinal rigidity
HP:0003700 29 Generalized amyotrophy
HP:0020152 29 Distal joint laxity
HP:0003327 29 Axial muscle weakness
HP:0003787 29 Type 1 and type 2 muscle fiber minicore regions
HP:0002792 29 Reduced vital capacity

Cluster *30

HPO Cluster Description
HP:0000508 30 Ptosis
HP:0001638 30 Cardiomyopathy
HP:0001324 30 Muscle weakness
HP:0011675 30 Arrhythmia
HP:0003701 30 Proximal muscle weakness
HP:0001644 30 Dilated cardiomyopathy
HP:0003560 30 Muscular dystrophy
HP:0003128 30 Lactic acidosis
HP:0003546 30 Exercise intolerance
HP:0000590 30 Progressive external ophthalmoplegia
HP:0002093 30 Respiratory insufficiency

Cluster *31

HPO Cluster Description
HP:0001252 31 Muscular hypotonia
HP:0003219 31 Ethylmalonic aciduria
HP:0012847 31 Epilepsia partialis continua
HP:0001992 31 Organic aciduria

Cluster *32

HPO Cluster Description
HP:0003394 32 Muscle spasm
HP:0003677 32 Slow progression
HP:0003701 32 Proximal muscle weakness
HP:0002378 32 Hand tremor
HP:0003457 32 EMG abnormality

Cluster *33

HPO Cluster Description
HP:0001762 33 Talipes equinovarus
HP:0001270 33 Motor delay
HP:0000508 33 Ptosis
HP:0000218 33 High palate
HP:0002650 33 Scoliosis
HP:0001188 33 Hand clenching
HP:0002804 33 Arthrogryposis multiplex congenita
HP:0001561 33 Polyhydramnios
HP:0003577 33 Congenital onset
HP:0011968 33 Feeding difficulties
HP:0001558 33 Decreased fetal movement
HP:0002747 33 Respiratory insufficiency due to muscle weakness
HP:0002058 33 Myopathic facies
HP:0003810 33 Late-onset distal muscle weakness

Cluster *34

HPO Cluster Description
HP:0003202 34 Skeletal muscle atrophy
HP:0001324 34 Muscle weakness
HP:0002380 34 Fasciculations
HP:0002486 34 Myotonia
HP:0003326 34 Myalgia
HP:0003712 34 Skeletal muscle hypertrophy
HP:0003552 34 Muscle stiffness

Cluster *35

HPO Cluster Description
HP:0003581 35 Adult onset
HP:0003394 35 Muscle spasm
HP:0001761 35 Pes cavus
HP:0003677 35 Slow progression
HP:0003701 35 Proximal muscle weakness
HP:0003376 35 Steppage gait
HP:0009027 35 Foot dorsiflexor weakness
HP:0003557 35 Increased variability in muscle fiber diameter
HP:0002355 35 Difficulty walking
HP:0002522 35 Areflexia of lower limbs
HP:0009046 35 Difficulty running
HP:0007126 35 Proximal amyotrophy

Cluster *36

HPO Cluster Description
HP:0001283 36 Bulbar palsy
HP:0002804 36 Arthrogryposis multiplex congenita
HP:0001561 36 Polyhydramnios
HP:0003307 36 Hyperlordosis
HP:0010628 36 Facial palsy
HP:0003324 36 Generalized muscle weakness
HP:0003803 36 Type 1 muscle fiber predominance
HP:0001612 36 Weak cry
HP:0002747 36 Respiratory insufficiency due to muscle weakness
HP:0003391 36 Gowers sign
HP:0003554 36 Type 2 muscle fiber atrophy
HP:0002058 36 Myopathic facies
HP:0003722 36 Neck flexor weakness
HP:0003810 36 Late-onset distal muscle weakness
HP:0002033 36 Poor suck
HP:0000597 36 Ophthalmoparesis
HP:0003402 36 Decreased miniature endplate potentials
HP:0003403 36 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 36 Fatigable weakness

Cluster *37

HPO Cluster Description
HP:0001302 37 Pachygyria
HP:0001561 37 Polyhydramnios
HP:0003198 37 Myopathy
HP:0003577 37 Congenital onset
HP:0001321 37 Cerebellar hypoplasia
HP:0001558 37 Decreased fetal movement
HP:0002093 37 Respiratory insufficiency
HP:0002058 37 Myopathic facies
HP:0002365 37 Hypoplasia of the brainstem
HP:0002803 37 Congenital contracture
HP:0012110 37 Hypoplasia of the pons
HP:0006829 37 Severe muscular hypotonia
HP:0007033 37 Cerebellar dysplasia
HP:0007260 37 Type II lissencephaly

Cluster *38

HPO Cluster Description
HP:0001302 38 Pachygyria
HP:0001270 38 Motor delay
HP:0000218 38 High palate
HP:0000518 38 Cataract
HP:0001283 38 Bulbar palsy
HP:0002804 38 Arthrogryposis multiplex congenita
HP:0001561 38 Polyhydramnios
HP:0003307 38 Hyperlordosis
HP:0010628 38 Facial palsy
HP:0003577 38 Congenital onset
HP:0001319 38 Neonatal hypotonia
HP:0001371 38 Flexion contracture
HP:0003324 38 Generalized muscle weakness
HP:0003798 38 Nemaline bodies
HP:0003803 38 Type 1 muscle fiber predominance
HP:0001612 38 Weak cry
HP:0003458 38 EMG: myopathic abnormalities
HP:0003557 38 Increased variability in muscle fiber diameter
HP:0002515 38 Waddling gait
HP:0003388 38 Easy fatigability
HP:0003691 38 Scapular winging
HP:0002747 38 Respiratory insufficiency due to muscle weakness
HP:0003391 38 Gowers sign
HP:0000467 38 Neck muscle weakness
HP:0002058 38 Myopathic facies
HP:0003306 38 Spinal rigidity
HP:0002033 38 Poor suck
HP:0006829 38 Severe muscular hypotonia
HP:0003473 38 Fatigable weakness

Cluster *39

HPO Cluster Description
HP:0001265 39 Hyporeflexia
HP:0001284 39 Areflexia
HP:0002878 39 Respiratory failure
HP:0002490 39 Increased CSF lactate
HP:0002421 39 Poor head control

Cluster *40

HPO Cluster Description
HP:0001283 40 Bulbar palsy
HP:0002015 40 Dysphagia
HP:0000544 40 External ophthalmoplegia
HP:0003557 40 Increased variability in muscle fiber diameter
HP:0002747 40 Respiratory insufficiency due to muscle weakness
HP:0003547 40 Shoulder girdle muscle weakness
HP:0003805 40 Rimmed vacuoles
HP:0003736 40 Autophagic vacuoles
HP:0008756 40 Bowing of the vocal cords

Cluster *41

HPO Cluster Description
HP:0000007 41 Autosomal recessive inheritance
HP:0001762 41 Talipes equinovarus
HP:0001270 41 Motor delay
HP:0000508 41 Ptosis
HP:0000218 41 High palate
HP:0002650 41 Scoliosis
HP:0001283 41 Bulbar palsy
HP:0001324 41 Muscle weakness
HP:0002804 41 Arthrogryposis multiplex congenita
HP:0001561 41 Polyhydramnios
HP:0003198 41 Myopathy
HP:0003690 41 Limb muscle weakness
HP:0003701 41 Proximal muscle weakness
HP:0003307 41 Hyperlordosis
HP:0010628 41 Facial palsy
HP:0001319 41 Neonatal hypotonia
HP:0001371 41 Flexion contracture
HP:0003324 41 Generalized muscle weakness
HP:0003798 41 Nemaline bodies
HP:0003803 41 Type 1 muscle fiber predominance
HP:0001612 41 Weak cry
HP:0003557 41 Increased variability in muscle fiber diameter
HP:0011968 41 Feeding difficulties
HP:0001558 41 Decreased fetal movement
HP:0002747 41 Respiratory insufficiency due to muscle weakness
HP:0003391 41 Gowers sign
HP:0003687 41 Centrally nucleated skeletal muscle fibers
HP:0000467 41 Neck muscle weakness
HP:0008180 41 Mildly elevated creatine kinase
HP:0002093 41 Respiratory insufficiency
HP:0002058 41 Myopathic facies
HP:0003306 41 Spinal rigidity
HP:0003722 41 Neck flexor weakness
HP:0003810 41 Late-onset distal muscle weakness
HP:0002033 41 Poor suck
HP:0003700 41 Generalized amyotrophy
HP:0003473 41 Fatigable weakness

Cluster *42

HPO Cluster Description
HP:0009830 42 Peripheral neuropathy
HP:0003676 42 Progressive
HP:0001265 42 Hyporeflexia
HP:0002380 42 Fasciculations
HP:0040078 42 Axonal degeneration
HP:0001761 42 Pes cavus
HP:0002015 42 Dysphagia
HP:0003693 42 Distal amyotrophy
HP:0003690 42 Limb muscle weakness
HP:0003701 42 Proximal muscle weakness
HP:0001284 42 Areflexia
HP:0002460 42 Distal muscle weakness
HP:0002936 42 Distal sensory impairment
HP:0003380 42 Decreased number of peripheral myelinated nerve fibers
HP:0003383 42 Onion bulb formation
HP:0003431 42 Decreased motor nerve conduction velocity
HP:0003378 42 Axonal degeneration/regeneration
HP:0000763 42 Sensory neuropathy

Cluster *43

HPO Cluster Description
HP:0003828 43 Variable expressivity
HP:0003690 43 Limb muscle weakness
HP:0003701 43 Proximal muscle weakness
HP:0010628 43 Facial palsy
HP:0003324 43 Generalized muscle weakness
HP:0003326 43 Myalgia
HP:0003458 43 EMG: myopathic abnormalities
HP:0003546 43 Exercise intolerance
HP:0003388 43 Easy fatigability
HP:0000590 43 Progressive external ophthalmoplegia
HP:0003688 43 Cytochrome C oxidase-negative muscle fibers
HP:0002355 43 Difficulty walking
HP:0002111 43 Restrictive deficit on pulmonary function testing
HP:0003547 43 Shoulder girdle muscle weakness
HP:0008981 43 Calf muscle hypertrophy
HP:0003749 43 Pelvic girdle muscle weakness
HP:0003391 43 Gowers sign
HP:0003687 43 Centrally nucleated skeletal muscle fibers
HP:0001771 43 Achilles tendon contracture
HP:0040083 43 Toe walking
HP:0003733 43 Thigh hypertrophy

Cluster *44

HPO Cluster Description
HP:0001270 44 Motor delay
HP:0003677 44 Slow progression
HP:0003701 44 Proximal muscle weakness
HP:0003307 44 Hyperlordosis
HP:0003560 44 Muscular dystrophy
HP:0003712 44 Skeletal muscle hypertrophy
HP:0003552 44 Muscle stiffness
HP:0003391 44 Gowers sign

Cluster *45

HPO Cluster Description
HP:0003828 45 Variable expressivity
HP:0003324 45 Generalized muscle weakness
HP:0008981 45 Calf muscle hypertrophy
HP:0003306 45 Spinal rigidity
HP:0002350 45 Cerebellar cyst
HP:0001321 45 Cerebellar hypoplasia
HP:0003733 45 Thigh hypertrophy

Cluster *46

HPO Cluster Description
HP:0001270 46 Motor delay
HP:0000218 46 High palate
HP:0002650 46 Scoliosis
HP:0003676 46 Progressive
HP:0002015 46 Dysphagia
HP:0003701 46 Proximal muscle weakness
HP:0001611 46 Nasal speech
HP:0010628 46 Facial palsy
HP:0001319 46 Neonatal hypotonia
HP:0001371 46 Flexion contracture
HP:0003458 46 EMG: myopathic abnormalities
HP:0003200 46 Ragged-red muscle fibers
HP:0003546 46 Exercise intolerance
HP:0003557 46 Increased variability in muscle fiber diameter
HP:0001618 46 Dysphonia
HP:0003388 46 Easy fatigability
HP:0000590 46 Progressive external ophthalmoplegia
HP:0003713 46 Muscle fiber necrosis
HP:0002747 46 Respiratory insufficiency due to muscle weakness
HP:0003391 46 Gowers sign
HP:0000467 46 Neck muscle weakness
HP:0008180 46 Mildly elevated creatine kinase
HP:0002058 46 Myopathic facies
HP:0003306 46 Spinal rigidity
HP:0003700 46 Generalized amyotrophy
HP:0003741 46 Congenital muscular dystrophy
HP:0020152 46 Distal joint laxity
HP:0003327 46 Axial muscle weakness
HP:0003787 46 Type 1 and type 2 muscle fiber minicore regions

Cluster *49

HPO Cluster Description
HP:0002398 49 Degeneration of anterior horn cells
HP:0007269 49 Spinal muscular atrophy
HP:0001308 49 Tongue fasciculations
HP:0008955 49 Progressive distal muscular atrophy
HP:0010307 49 Stridor

Cluster *50

HPO Cluster Description
HP:0001270 50 Motor delay
HP:0000158 50 Macroglossia
HP:0003701 50 Proximal muscle weakness
HP:0003307 50 Hyperlordosis
HP:0010628 50 Facial palsy
HP:0001371 50 Flexion contracture
HP:0003324 50 Generalized muscle weakness
HP:0003798 50 Nemaline bodies
HP:0003803 50 Type 1 muscle fiber predominance
HP:0003326 50 Myalgia
HP:0003458 50 EMG: myopathic abnormalities
HP:0002111 50 Restrictive deficit on pulmonary function testing
HP:0008981 50 Calf muscle hypertrophy
HP:0003306 50 Spinal rigidity
HP:0003722 50 Neck flexor weakness
HP:0003810 50 Late-onset distal muscle weakness
HP:0003551 50 Difficulty climbing stairs
HP:0040083 50 Toe walking
HP:0003733 50 Thigh hypertrophy

Cluster *51

HPO Cluster Description
HP:0001270 51 Motor delay
HP:0003828 51 Variable expressivity
HP:0001265 51 Hyporeflexia
HP:0001761 51 Pes cavus
HP:0003677 51 Slow progression
HP:0003701 51 Proximal muscle weakness
HP:0010628 51 Facial palsy
HP:0001319 51 Neonatal hypotonia
HP:0001371 51 Flexion contracture
HP:0003798 51 Nemaline bodies
HP:0001284 51 Areflexia
HP:0003458 51 EMG: myopathic abnormalities
HP:0003557 51 Increased variability in muscle fiber diameter
HP:0003691 51 Scapular winging
HP:0002359 51 Frequent falls
HP:0002355 51 Difficulty walking
HP:0009046 51 Difficulty running
HP:0008981 51 Calf muscle hypertrophy
HP:0003391 51 Gowers sign
HP:0000467 51 Neck muscle weakness
HP:0003805 51 Rimmed vacuoles
HP:0002093 51 Respiratory insufficiency
HP:0003306 51 Spinal rigidity
HP:0003551 51 Difficulty climbing stairs
HP:0009025 51 Increased connective tissue

Cluster *52

HPO Cluster Description
HP:0001425 52 Heterogeneous
HP:0001761 52 Pes cavus
HP:0003677 52 Slow progression
HP:0003693 52 Distal amyotrophy
HP:0003690 52 Limb muscle weakness
HP:0003701 52 Proximal muscle weakness
HP:0003803 52 Type 1 muscle fiber predominance
HP:0002460 52 Distal muscle weakness
HP:0011463 52 Childhood onset
HP:0003236 52 Elevated serum creatine kinase
HP:0003560 52 Muscular dystrophy
HP:0002515 52 Waddling gait
HP:0003445 52 EMG: neuropathic changes
HP:0000467 52 Neck muscle weakness

Cluster *54

HPO Cluster Description
HP:0001265 54 Hyporeflexia
HP:0001761 54 Pes cavus
HP:0003677 54 Slow progression
HP:0003693 54 Distal amyotrophy
HP:0003701 54 Proximal muscle weakness
HP:0003307 54 Hyperlordosis
HP:0010628 54 Facial palsy
HP:0003458 54 EMG: myopathic abnormalities
HP:0002515 54 Waddling gait
HP:0003691 54 Scapular winging
HP:0002359 54 Frequent falls
HP:0002355 54 Difficulty walking
HP:0003547 54 Shoulder girdle muscle weakness
HP:0008981 54 Calf muscle hypertrophy
HP:0003306 54 Spinal rigidity
HP:0003551 54 Difficulty climbing stairs
HP:0001771 54 Achilles tendon contracture

Cluster *56

HPO Cluster Description
HP:0002380 56 Fasciculations
HP:0002398 56 Degeneration of anterior horn cells
HP:0001284 56 Areflexia
HP:0003394 56 Muscle spasm
HP:0007354 56 Amyotrophic lateral sclerosis
HP:0040078 56 Axonal degeneration
HP:0003677 56 Slow progression
HP:0003701 56 Proximal muscle weakness
HP:0002355 56 Difficulty walking
HP:0001558 56 Decreased fetal movement
HP:0002747 56 Respiratory insufficiency due to muscle weakness
HP:0000764 56 Peripheral axonal degeneration
HP:0001308 56 Tongue fasciculations

Cluster *57

HPO Cluster Description
HP:0001265 57 Hyporeflexia
HP:0001284 57 Areflexia
HP:0003380 57 Decreased number of peripheral myelinated nerve fibers
HP:0007460 57 Autoamputation of digits
HP:0002661 57 Painless fractures due to injury
HP:0007021 57 Pain insensitivity
HP:0008000 57 Decreased corneal reflex
HP:0000522 57 Alacrima
HP:0000224 57 Decreased taste sensation
HP:0001069 57 Episodic hyperhidrosis
HP:0006121 57 Acral ulceration
HP:0012211 57 Abnormal renal physiology

Cluster *59

HPO Cluster Description
HP:0001270 59 Motor delay
HP:0000508 59 Ptosis
HP:0000218 59 High palate
HP:0002650 59 Scoliosis
HP:0001283 59 Bulbar palsy
HP:0002804 59 Arthrogryposis multiplex congenita
HP:0001561 59 Polyhydramnios
HP:0003701 59 Proximal muscle weakness
HP:0010628 59 Facial palsy
HP:0001644 59 Dilated cardiomyopathy
HP:0001319 59 Neonatal hypotonia
HP:0001371 59 Flexion contracture
HP:0003324 59 Generalized muscle weakness
HP:0003798 59 Nemaline bodies
HP:0001612 59 Weak cry
HP:0000467 59 Neck muscle weakness
HP:0002093 59 Respiratory insufficiency
HP:0007126 59 Proximal amyotrophy
HP:0002058 59 Myopathic facies
HP:0003306 59 Spinal rigidity
HP:0032341 59 Reduced forced vital capacity

Cluster *60

HPO Cluster Description
HP:0001761 60 Pes cavus
HP:0003677 60 Slow progression
HP:0003693 60 Distal amyotrophy
HP:0001765 60 Hammertoe
HP:0003392 60 First dorsal interossei muscle weakness
HP:0003426 60 First dorsal interossei muscle atrophy
HP:0003427 60 Thenar muscle weakness
HP:0003435 60 Cold-induced hand cramps

Cluster *61

HPO Cluster Description
HP:0003676 61 Progressive
HP:0001283 61 Bulbar palsy
HP:0003581 61 Adult onset
HP:0001265 61 Hyporeflexia
HP:0002380 61 Fasciculations
HP:0003394 61 Muscle spasm
HP:0001761 61 Pes cavus
HP:0002015 61 Dysphagia
HP:0003677 61 Slow progression
HP:0003693 61 Distal amyotrophy
HP:0003701 61 Proximal muscle weakness
HP:0001284 61 Areflexia
HP:0002460 61 Distal muscle weakness
HP:0002936 61 Distal sensory impairment
HP:0003431 61 Decreased motor nerve conduction velocity
HP:0009027 61 Foot dorsiflexor weakness
HP:0002355 61 Difficulty walking
HP:0009046 61 Difficulty running
HP:0002747 61 Respiratory insufficiency due to muscle weakness
HP:0008981 61 Calf muscle hypertrophy
HP:0007126 61 Proximal amyotrophy

Cluster *62

HPO Cluster Description
HP:0001270 62 Motor delay
HP:0000508 62 Ptosis
HP:0003828 62 Variable expressivity
HP:0003307 62 Hyperlordosis
HP:0010628 62 Facial palsy
HP:0001319 62 Neonatal hypotonia
HP:0001371 62 Flexion contracture
HP:0003798 62 Nemaline bodies
HP:0001612 62 Weak cry
HP:0002515 62 Waddling gait
HP:0002355 62 Difficulty walking
HP:0002747 62 Respiratory insufficiency due to muscle weakness
HP:0003547 62 Shoulder girdle muscle weakness
HP:0008981 62 Calf muscle hypertrophy
HP:0003749 62 Pelvic girdle muscle weakness
HP:0003391 62 Gowers sign
HP:0000467 62 Neck muscle weakness
HP:0002093 62 Respiratory insufficiency
HP:0003554 62 Type 2 muscle fiber atrophy
HP:0003551 62 Difficulty climbing stairs
HP:0002715 62 Abnormality of the immune system
HP:0000597 62 Ophthalmoparesis
HP:0003403 62 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 62 Fatigable weakness

Cluster *63

HPO Cluster Description
HP:0001270 63 Motor delay
HP:0000508 63 Ptosis
HP:0000218 63 High palate
HP:0003202 63 Skeletal muscle atrophy
HP:0003676 63 Progressive
HP:0001265 63 Hyporeflexia
HP:0003477 63 Peripheral axonal neuropathy
HP:0001188 63 Hand clenching
HP:0002804 63 Arthrogryposis multiplex congenita
HP:0000602 63 Ophthalmoplegia
HP:0001561 63 Polyhydramnios
HP:0003690 63 Limb muscle weakness
HP:0003798 63 Nemaline bodies
HP:0001284 63 Areflexia
HP:0003431 63 Decreased motor nerve conduction velocity
HP:0001349 63 Facial diplegia
HP:0003458 63 EMG: myopathic abnormalities
HP:0001558 63 Decreased fetal movement
HP:0002747 63 Respiratory insufficiency due to muscle weakness
HP:0003391 63 Gowers sign
HP:0000467 63 Neck muscle weakness
HP:0002058 63 Myopathic facies

Cluster *64

HPO Cluster Description
HP:0001270 64 Motor delay
HP:0000218 64 High palate
HP:0002650 64 Scoliosis
HP:0001761 64 Pes cavus
HP:0003677 64 Slow progression
HP:0003325 64 Limb-girdle muscle weakness
HP:0001319 64 Neonatal hypotonia
HP:0001371 64 Flexion contracture
HP:0003803 64 Type 1 muscle fiber predominance
HP:0003691 64 Scapular winging
HP:0003391 64 Gowers sign
HP:0008180 64 Mildly elevated creatine kinase
HP:0003306 64 Spinal rigidity
HP:0020152 64 Distal joint laxity

Cluster *65

HPO Cluster Description
HP:0000508 65 Ptosis
HP:0003676 65 Progressive
HP:0001260 65 Dysarthria
HP:0003394 65 Muscle spasm
HP:0002015 65 Dysphagia
HP:0003677 65 Slow progression
HP:0000544 65 External ophthalmoplegia
HP:0003324 65 Generalized muscle weakness
HP:0003701 65 Proximal muscle weakness
HP:0010628 65 Facial palsy
HP:0001284 65 Areflexia
HP:0003458 65 EMG: myopathic abnormalities
HP:0003557 65 Increased variability in muscle fiber diameter
HP:0003388 65 Easy fatigability
HP:0000590 65 Progressive external ophthalmoplegia
HP:0009046 65 Difficulty running
HP:0000467 65 Neck muscle weakness
HP:0002093 65 Respiratory insufficiency
HP:0002058 65 Myopathic facies

Cluster *66

HPO Cluster Description
HP:0009830 66 Peripheral neuropathy
HP:0001283 66 Bulbar palsy
HP:0001265 66 Hyporeflexia
HP:0002380 66 Fasciculations
HP:0001761 66 Pes cavus
HP:0003677 66 Slow progression
HP:0003693 66 Distal amyotrophy
HP:0003690 66 Limb muscle weakness
HP:0003701 66 Proximal muscle weakness
HP:0003307 66 Hyperlordosis
HP:0010628 66 Facial palsy
HP:0003324 66 Generalized muscle weakness
HP:0003798 66 Nemaline bodies
HP:0003803 66 Type 1 muscle fiber predominance
HP:0001284 66 Areflexia
HP:0002460 66 Distal muscle weakness
HP:0002936 66 Distal sensory impairment
HP:0003376 66 Steppage gait
HP:0011096 66 Peripheral demyelination
HP:0003458 66 EMG: myopathic abnormalities
HP:0003200 66 Ragged-red muscle fibers
HP:0001533 66 Slender build
HP:0002515 66 Waddling gait
HP:0000762 66 Decreased nerve conduction velocity
HP:0007340 66 Lower limb muscle weakness
HP:0002359 66 Frequent falls
HP:0002355 66 Difficulty walking
HP:0003445 66 EMG: neuropathic changes
HP:0001558 66 Decreased fetal movement
HP:0002747 66 Respiratory insufficiency due to muscle weakness
HP:0003805 66 Rimmed vacuoles
HP:0008180 66 Mildly elevated creatine kinase
HP:0007126 66 Proximal amyotrophy
HP:0002058 66 Myopathic facies
HP:0003306 66 Spinal rigidity
HP:0003722 66 Neck flexor weakness
HP:0003810 66 Late-onset distal muscle weakness
HP:0003555 66 Muscle fiber splitting

Cluster *68

HPO Cluster Description
HP:0001283 68 Bulbar palsy
HP:0003701 68 Proximal muscle weakness
HP:0010628 68 Facial palsy
HP:0001319 68 Neonatal hypotonia
HP:0003324 68 Generalized muscle weakness
HP:0003798 68 Nemaline bodies
HP:0003803 68 Type 1 muscle fiber predominance
HP:0001612 68 Weak cry
HP:0003458 68 EMG: myopathic abnormalities
HP:0002359 68 Frequent falls
HP:0002747 68 Respiratory insufficiency due to muscle weakness
HP:0003391 68 Gowers sign
HP:0000467 68 Neck muscle weakness
HP:0003554 68 Type 2 muscle fiber atrophy
HP:0002058 68 Myopathic facies
HP:0003306 68 Spinal rigidity
HP:0003722 68 Neck flexor weakness
HP:0003810 68 Late-onset distal muscle weakness
HP:0002033 68 Poor suck
HP:0002715 68 Abnormality of the immune system
HP:0000597 68 Ophthalmoparesis
HP:0002872 68 Apneic episodes precipitated by illness, fatigue, stress
HP:0002882 68 Sudden episodic apnea
HP:0003397 68 Generalized hypotonia due to defect at the neuromuscular junction
HP:0003402 68 Decreased miniature endplate potentials
HP:0003403 68 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 68 Fatigable weakness

Cluster *69

HPO Cluster Description
HP:0001762 69 Talipes equinovarus
HP:0001270 69 Motor delay
HP:0000508 69 Ptosis
HP:0000218 69 High palate
HP:0002751 69 Kyphoscoliosis
HP:0003202 69 Skeletal muscle atrophy
HP:0001171 69 Split hand
HP:0001425 69 Heterogeneous
HP:0001265 69 Hyporeflexia
HP:0001761 69 Pes cavus
HP:0003693 69 Distal amyotrophy
HP:0003690 69 Limb muscle weakness
HP:0001371 69 Flexion contracture
HP:0001178 69 Ulnar claw
HP:0001284 69 Areflexia
HP:0001765 69 Hammertoe
HP:0002460 69 Distal muscle weakness
HP:0002936 69 Distal sensory impairment
HP:0003376 69 Steppage gait
HP:0003380 69 Decreased number of peripheral myelinated nerve fibers
HP:0003382 69 Hypertrophic nerve changes
HP:0003383 69 Onion bulb formation
HP:0003431 69 Decreased motor nerve conduction velocity
HP:0003449 69 Cold-induced muscle cramps
HP:0003621 69 Juvenile onset
HP:0004336 69 Myelin outfoldings
HP:0009027 69 Foot dorsiflexor weakness
HP:0003481 69 Segmental peripheral demyelination/remyelination
HP:0002355 69 Difficulty walking

Cluster *70

HPO Cluster Description
HP:0001265 70 Hyporeflexia
HP:0003677 70 Slow progression
HP:0003701 70 Proximal muscle weakness
HP:0010628 70 Facial palsy
HP:0003324 70 Generalized muscle weakness
HP:0003798 70 Nemaline bodies
HP:0003803 70 Type 1 muscle fiber predominance
HP:0001284 70 Areflexia
HP:0009027 70 Foot dorsiflexor weakness
HP:0003458 70 EMG: myopathic abnormalities
HP:0003546 70 Exercise intolerance
HP:0003557 70 Increased variability in muscle fiber diameter
HP:0002058 70 Myopathic facies
HP:0003722 70 Neck flexor weakness
HP:0003810 70 Late-onset distal muscle weakness

Cluster *71

HPO Cluster Description
HP:0003828 71 Variable expressivity
HP:0003676 71 Progressive
HP:0001265 71 Hyporeflexia
HP:0001288 71 Gait disturbance
HP:0001761 71 Pes cavus
HP:0002015 71 Dysphagia
HP:0003677 71 Slow progression
HP:0000544 71 External ophthalmoplegia
HP:0003693 71 Distal amyotrophy
HP:0003690 71 Limb muscle weakness
HP:0003701 71 Proximal muscle weakness
HP:0001284 71 Areflexia
HP:0002460 71 Distal muscle weakness
HP:0002936 71 Distal sensory impairment
HP:0003383 71 Onion bulb formation
HP:0009027 71 Foot dorsiflexor weakness
HP:0003326 71 Myalgia
HP:0003546 71 Exercise intolerance
HP:0001618 71 Dysphonia
HP:0003805 71 Rimmed vacuoles
HP:0008180 71 Mildly elevated creatine kinase
HP:0007126 71 Proximal amyotrophy
HP:0003551 71 Difficulty climbing stairs

Cluster *73

HPO Cluster Description
HP:0003676 73 Progressive
HP:0001260 73 Dysarthria
HP:0001265 73 Hyporeflexia
HP:0001324 73 Muscle weakness
HP:0001761 73 Pes cavus
HP:0003693 73 Distal amyotrophy
HP:0002936 73 Distal sensory impairment
HP:0003621 73 Juvenile onset
HP:0003390 73 Sensory axonal neuropathy
HP:0007002 73 Motor axonal neuropathy

Cluster *74

HPO Cluster Description
HP:0003202 74 Skeletal muscle atrophy
HP:0003581 74 Adult onset
HP:0003678 74 Rapidly progressive
HP:0001288 74 Gait disturbance
HP:0003307 74 Hyperlordosis
HP:0001371 74 Flexion contracture
HP:0001284 74 Areflexia
HP:0003236 74 Elevated serum creatine kinase
HP:0003560 74 Muscular dystrophy
HP:0002747 74 Respiratory insufficiency due to muscle weakness
HP:0003551 74 Difficulty climbing stairs

Cluster *75

HPO Cluster Description
HP:0001270 75 Motor delay
HP:0003828 75 Variable expressivity
HP:0001283 75 Bulbar palsy
HP:0001265 75 Hyporeflexia
HP:0002804 75 Arthrogryposis multiplex congenita
HP:0003677 75 Slow progression
HP:0003701 75 Proximal muscle weakness
HP:0003307 75 Hyperlordosis
HP:0010628 75 Facial palsy
HP:0001319 75 Neonatal hypotonia
HP:0001371 75 Flexion contracture
HP:0003324 75 Generalized muscle weakness
HP:0001284 75 Areflexia
HP:0001612 75 Weak cry
HP:0002515 75 Waddling gait
HP:0003388 75 Easy fatigability
HP:0002359 75 Frequent falls
HP:0002355 75 Difficulty walking
HP:0009046 75 Difficulty running
HP:0001558 75 Decreased fetal movement
HP:0002747 75 Respiratory insufficiency due to muscle weakness
HP:0008981 75 Calf muscle hypertrophy
HP:0003391 75 Gowers sign
HP:0002093 75 Respiratory insufficiency
HP:0003554 75 Type 2 muscle fiber atrophy
HP:0003306 75 Spinal rigidity
HP:0003551 75 Difficulty climbing stairs
HP:0002033 75 Poor suck
HP:0002715 75 Abnormality of the immune system
HP:0000597 75 Ophthalmoparesis
HP:0003402 75 Decreased miniature endplate potentials
HP:0003403 75 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 75 Fatigable weakness
HP:0003443 75 Decreased size of nerve terminals

Cluster *76

HPO Cluster Description
HP:0000007 76 Autosomal recessive inheritance
HP:0001762 76 Talipes equinovarus
HP:0001270 76 Motor delay
HP:0000508 76 Ptosis
HP:0003828 76 Variable expressivity
HP:0002650 76 Scoliosis
HP:0003202 76 Skeletal muscle atrophy
HP:0001283 76 Bulbar palsy
HP:0001265 76 Hyporeflexia
HP:0001324 76 Muscle weakness
HP:0003477 76 Peripheral axonal neuropathy
HP:0003394 76 Muscle spasm
HP:0002804 76 Arthrogryposis multiplex congenita
HP:0000602 76 Ophthalmoplegia
HP:0001761 76 Pes cavus
HP:0003677 76 Slow progression
HP:0003198 76 Myopathy
HP:0003690 76 Limb muscle weakness
HP:0003701 76 Proximal muscle weakness
HP:0010628 76 Facial palsy
HP:0001371 76 Flexion contracture
HP:0003798 76 Nemaline bodies
HP:0001284 76 Areflexia
HP:0002460 76 Distal muscle weakness
HP:0002936 76 Distal sensory impairment
HP:0003431 76 Decreased motor nerve conduction velocity
HP:0009027 76 Foot dorsiflexor weakness
HP:0003560 76 Muscular dystrophy
HP:0003546 76 Exercise intolerance
HP:0001618 76 Dysphonia
HP:0003388 76 Easy fatigability
HP:0011968 76 Feeding difficulties
HP:0003691 76 Scapular winging
HP:0000590 76 Progressive external ophthalmoplegia
HP:0003323 76 Progressive muscle weakness
HP:0003713 76 Muscle fiber necrosis
HP:0002355 76 Difficulty walking
HP:0001558 76 Decreased fetal movement
HP:0002747 76 Respiratory insufficiency due to muscle weakness
HP:0008981 76 Calf muscle hypertrophy
HP:0003391 76 Gowers sign
HP:0003687 76 Centrally nucleated skeletal muscle fibers
HP:0002093 76 Respiratory insufficiency
HP:0002058 76 Myopathic facies
HP:0009025 76 Increased connective tissue

Cluster *77

HPO Cluster Description
HP:0001638 77 Cardiomyopathy
HP:0011675 77 Arrhythmia
HP:0003307 77 Hyperlordosis
HP:0001644 77 Dilated cardiomyopathy
HP:0003458 77 EMG: myopathic abnormalities
HP:0002515 77 Waddling gait
HP:0003691 77 Scapular winging
HP:0003713 77 Muscle fiber necrosis
HP:0003724 77 Shoulder girdle muscle atrophy
HP:0003391 77 Gowers sign
HP:0003687 77 Centrally nucleated skeletal muscle fibers
HP:0008988 77 Pelvic girdle muscle atrophy
HP:0003704 77 Scapuloperoneal weakness
HP:0003697 77 Scapuloperoneal amyotrophy
HP:0003707 77 Calf muscle pseudohypertrophy
HP:0003731 77 Quadriceps muscle weakness
HP:0002792 77 Reduced vital capacity

Cluster *78

HPO Cluster Description
HP:0001638 78 Cardiomyopathy
HP:0001324 78 Muscle weakness
HP:0001649 78 Tachycardia
HP:0001962 78 Palpitations
HP:0003768 78 Periodic paralysis
HP:0003201 78 Rhabdomyolysis
HP:0003326 78 Myalgia

Cluster *79

HPO Cluster Description
HP:0003677 79 Slow progression
HP:0003701 79 Proximal muscle weakness
HP:0003307 79 Hyperlordosis
HP:0010628 79 Facial palsy
HP:0003798 79 Nemaline bodies
HP:0001284 79 Areflexia
HP:0002460 79 Distal muscle weakness
HP:0009027 79 Foot dorsiflexor weakness
HP:0003458 79 EMG: myopathic abnormalities
HP:0003557 79 Increased variability in muscle fiber diameter
HP:0003691 79 Scapular winging
HP:0002747 79 Respiratory insufficiency due to muscle weakness
HP:0003547 79 Shoulder girdle muscle weakness
HP:0008981 79 Calf muscle hypertrophy
HP:0003749 79 Pelvic girdle muscle weakness
HP:0003687 79 Centrally nucleated skeletal muscle fibers
HP:0003805 79 Rimmed vacuoles
HP:0003306 79 Spinal rigidity
HP:0003810 79 Late-onset distal muscle weakness
HP:0003551 79 Difficulty climbing stairs
HP:0001771 79 Achilles tendon contracture
HP:0003555 79 Muscle fiber splitting
HP:0009025 79 Increased connective tissue

Cluster *81

HPO Cluster Description
HP:0000007 81 Autosomal recessive inheritance
HP:0001762 81 Talipes equinovarus
HP:0001270 81 Motor delay
HP:0000508 81 Ptosis
HP:0000218 81 High palate
HP:0002650 81 Scoliosis
HP:0003593 81 Infantile onset
HP:0008872 81 Feeding difficulties in infancy
HP:0001561 81 Polyhydramnios
HP:0003690 81 Limb muscle weakness
HP:0010628 81 Facial palsy
HP:0001319 81 Neonatal hypotonia
HP:0001371 81 Flexion contracture
HP:0003324 81 Generalized muscle weakness
HP:0003798 81 Nemaline bodies
HP:0003803 81 Type 1 muscle fiber predominance
HP:0001612 81 Weak cry
HP:0001349 81 Facial diplegia
HP:0003128 81 Lactic acidosis
HP:0002747 81 Respiratory insufficiency due to muscle weakness
HP:0002093 81 Respiratory insufficiency
HP:0002058 81 Myopathic facies
HP:0002033 81 Poor suck
HP:0008972 81 Decreased activity of mitochondrial respiratory chain
HP:0003403 81 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003327 81 Axial muscle weakness

Cluster *83

HPO Cluster Description
HP:0000007 83 Autosomal recessive inheritance
HP:0009830 83 Peripheral neuropathy
HP:0000508 83 Ptosis
HP:0000218 83 High palate
HP:0000602 83 Ophthalmoplegia
HP:0003198 83 Myopathy
HP:0003701 83 Proximal muscle weakness
HP:0010628 83 Facial palsy
HP:0001319 83 Neonatal hypotonia
HP:0001371 83 Flexion contracture
HP:0003324 83 Generalized muscle weakness
HP:0003200 83 Ragged-red muscle fibers
HP:0003388 83 Easy fatigability
HP:0003390 83 Sensory axonal neuropathy
HP:0011968 83 Feeding difficulties
HP:0001558 83 Decreased fetal movement
HP:0002747 83 Respiratory insufficiency due to muscle weakness
HP:0003687 83 Centrally nucleated skeletal muscle fibers
HP:0000467 83 Neck muscle weakness
HP:0002093 83 Respiratory insufficiency
HP:0006829 83 Severe muscular hypotonia

Cluster *84

HPO Cluster Description
HP:0001270 84 Motor delay
HP:0003828 84 Variable expressivity
HP:0002650 84 Scoliosis
HP:0003676 84 Progressive
HP:0001260 84 Dysarthria
HP:0001265 84 Hyporeflexia
HP:0002380 84 Fasciculations
HP:0040078 84 Axonal degeneration
HP:0001761 84 Pes cavus
HP:0003693 84 Distal amyotrophy
HP:0002460 84 Distal muscle weakness
HP:0003431 84 Decreased motor nerve conduction velocity
HP:0002359 84 Frequent falls
HP:0002355 84 Difficulty walking
HP:0003547 84 Shoulder girdle muscle weakness
HP:0008981 84 Calf muscle hypertrophy
HP:0003391 84 Gowers sign
HP:0000764 84 Peripheral axonal degeneration
HP:0003551 84 Difficulty climbing stairs
HP:0003741 84 Congenital muscular dystrophy
HP:0040083 84 Toe walking

Cluster *86

HPO Cluster Description
HP:0002380 86 Fasciculations
HP:0003394 86 Muscle spasm
HP:0002936 86 Distal sensory impairment
HP:0009027 86 Foot dorsiflexor weakness
HP:0002411 86 Myokymia

Cluster *87

HPO Cluster Description
HP:0000508 87 Ptosis
HP:0003677 87 Slow progression
HP:0003198 87 Myopathy
HP:0003326 87 Myalgia
HP:0003690 87 Limb muscle weakness
HP:0003701 87 Proximal muscle weakness
HP:0010628 87 Facial palsy
HP:0001319 87 Neonatal hypotonia
HP:0001371 87 Flexion contracture
HP:0003324 87 Generalized muscle weakness
HP:0003798 87 Nemaline bodies
HP:0003737 87 Mitochondrial myopathy
HP:0003200 87 Ragged-red muscle fibers
HP:0003201 87 Rhabdomyolysis
HP:0003546 87 Exercise intolerance
HP:0003557 87 Increased variability in muscle fiber diameter
HP:0002515 87 Waddling gait
HP:0003388 87 Easy fatigability
HP:0003691 87 Scapular winging
HP:0000590 87 Progressive external ophthalmoplegia
HP:0009046 87 Difficulty running
HP:0002747 87 Respiratory insufficiency due to muscle weakness
HP:0003749 87 Pelvic girdle muscle weakness
HP:0003391 87 Gowers sign
HP:0003687 87 Centrally nucleated skeletal muscle fibers
HP:0003805 87 Rimmed vacuoles
HP:0008180 87 Mildly elevated creatine kinase
HP:0002093 87 Respiratory insufficiency
HP:0003554 87 Type 2 muscle fiber atrophy
HP:0007126 87 Proximal amyotrophy
HP:0002058 87 Myopathic facies
HP:0003722 87 Neck flexor weakness
HP:0003551 87 Difficulty climbing stairs
HP:0003555 87 Muscle fiber splitting
HP:0003403 87 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation

Cluster *88

HPO Cluster Description
HP:0001270 88 Motor delay
HP:0001319 88 Neonatal hypotonia
HP:0001171 88 Split hand
HP:0001265 88 Hyporeflexia
HP:0040078 88 Axonal degeneration
HP:0001288 88 Gait disturbance
HP:0001761 88 Pes cavus
HP:0003677 88 Slow progression
HP:0003693 88 Distal amyotrophy
HP:0003690 88 Limb muscle weakness
HP:0001371 88 Flexion contracture
HP:0003803 88 Type 1 muscle fiber predominance
HP:0001178 88 Ulnar claw
HP:0001284 88 Areflexia
HP:0002460 88 Distal muscle weakness
HP:0002936 88 Distal sensory impairment
HP:0003380 88 Decreased number of peripheral myelinated nerve fibers
HP:0003382 88 Hypertrophic nerve changes
HP:0003383 88 Onion bulb formation
HP:0003431 88 Decreased motor nerve conduction velocity
HP:0003481 88 Segmental peripheral demyelination/remyelination
HP:0001533 88 Slender build
HP:0002359 88 Frequent falls
HP:0002355 88 Difficulty walking
HP:0002058 88 Myopathic facies
HP:0003810 88 Late-onset distal muscle weakness
HP:0000764 88 Peripheral axonal degeneration
HP:0001771 88 Achilles tendon contracture
HP:0003400 88 Basal lamina onion bulb formation
HP:0007182 88 Peripheral hypomyelination
HP:0007141 88 Sensorimotor neuropathy
HP:0003484 88 Upper limb muscle weakness

Cluster *90

HPO Cluster Description
HP:0001283 90 Bulbar palsy
HP:0003581 90 Adult onset
HP:0001265 90 Hyporeflexia
HP:0003477 90 Peripheral axonal neuropathy
HP:0001288 90 Gait disturbance
HP:0001761 90 Pes cavus
HP:0003677 90 Slow progression
HP:0003693 90 Distal amyotrophy
HP:0003690 90 Limb muscle weakness
HP:0003701 90 Proximal muscle weakness
HP:0010628 90 Facial palsy
HP:0001284 90 Areflexia
HP:0002460 90 Distal muscle weakness
HP:0002936 90 Distal sensory impairment
HP:0009027 90 Foot dorsiflexor weakness
HP:0003326 90 Myalgia
HP:0003458 90 EMG: myopathic abnormalities
HP:0003200 90 Ragged-red muscle fibers
HP:0003546 90 Exercise intolerance
HP:0003557 90 Increased variability in muscle fiber diameter
HP:0001618 90 Dysphonia
HP:0003390 90 Sensory axonal neuropathy
HP:0000590 90 Progressive external ophthalmoplegia
HP:0003323 90 Progressive muscle weakness
HP:0003548 90 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 90 Cytochrome C oxidase-negative muscle fibers
HP:0003713 90 Muscle fiber necrosis
HP:0006886 90 Impaired distal vibration sensation
HP:0009046 90 Difficulty running
HP:0002747 90 Respiratory insufficiency due to muscle weakness
HP:0003547 90 Shoulder girdle muscle weakness
HP:0003749 90 Pelvic girdle muscle weakness
HP:0000467 90 Neck muscle weakness
HP:0003805 90 Rimmed vacuoles
HP:0008180 90 Mildly elevated creatine kinase
HP:0007126 90 Proximal amyotrophy
HP:0003551 90 Difficulty climbing stairs
HP:0000763 90 Sensory neuropathy
HP:0003555 90 Muscle fiber splitting
HP:0002403 90 Positive Romberg sign
HP:0003434 90 Sensory ataxic neuropathy
HP:0003715 90 Myofibrillar myopathy
HP:0100303 90 Muscle fiber cytoplasmatic inclusion bodies

Cluster *92

HPO Cluster Description
HP:0001270 92 Motor delay
HP:0001265 92 Hyporeflexia
HP:0001761 92 Pes cavus
HP:0003701 92 Proximal muscle weakness
HP:0010628 92 Facial palsy
HP:0001319 92 Neonatal hypotonia
HP:0001371 92 Flexion contracture
HP:0001284 92 Areflexia
HP:0009027 92 Foot dorsiflexor weakness
HP:0003200 92 Ragged-red muscle fibers
HP:0003557 92 Increased variability in muscle fiber diameter
HP:0003390 92 Sensory axonal neuropathy
HP:0000590 92 Progressive external ophthalmoplegia
HP:0003548 92 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 92 Cytochrome C oxidase-negative muscle fibers
HP:0003713 92 Muscle fiber necrosis
HP:0006886 92 Impaired distal vibration sensation
HP:0002355 92 Difficulty walking
HP:0008981 92 Calf muscle hypertrophy
HP:0002058 92 Myopathic facies
HP:0003551 92 Difficulty climbing stairs
HP:0002403 92 Positive Romberg sign
HP:0003434 92 Sensory ataxic neuropathy

Cluster *93

HPO Cluster Description
HP:0003677 93 Slow progression
HP:0003325 93 Limb-girdle muscle weakness
HP:0003557 93 Increased variability in muscle fiber diameter
HP:0003691 93 Scapular winging
HP:0003547 93 Shoulder girdle muscle weakness
HP:0003724 93 Shoulder girdle muscle atrophy
HP:0008981 93 Calf muscle hypertrophy
HP:0003749 93 Pelvic girdle muscle weakness
HP:0003805 93 Rimmed vacuoles
HP:0003722 93 Neck flexor weakness
HP:0008988 93 Pelvic girdle muscle atrophy
HP:0003555 93 Muscle fiber splitting
HP:0002877 93 Nocturnal hypoventilation
HP:0003731 93 Quadriceps muscle weakness
HP:0003715 93 Myofibrillar myopathy
HP:0002792 93 Reduced vital capacity

Cluster *94

HPO Cluster Description
HP:0000007 94 Autosomal recessive inheritance
HP:0001302 94 Pachygyria
HP:0001270 94 Motor delay
HP:0000557 94 Buphthalmos
HP:0003202 94 Skeletal muscle atrophy
HP:0000518 94 Cataract
HP:0002804 94 Arthrogryposis multiplex congenita
HP:0003198 94 Myopathy
HP:0010628 94 Facial palsy
HP:0001371 94 Flexion contracture
HP:0003324 94 Generalized muscle weakness
HP:0003557 94 Increased variability in muscle fiber diameter
HP:0011968 94 Feeding difficulties
HP:0001558 94 Decreased fetal movement
HP:0002747 94 Respiratory insufficiency due to muscle weakness
HP:0000467 94 Neck muscle weakness
HP:0002093 94 Respiratory insufficiency
HP:0002058 94 Myopathic facies
HP:0003306 94 Spinal rigidity
HP:0002365 94 Hypoplasia of the brainstem
HP:0003700 94 Generalized amyotrophy
HP:0007973 94 Retinal dysplasia
HP:0012110 94 Hypoplasia of the pons
HP:0006829 94 Severe muscular hypotonia
HP:0003741 94 Congenital muscular dystrophy
HP:0007033 94 Cerebellar dysplasia
HP:0007260 94 Type II lissencephaly
HP:0031882 94 Agyria
HP:0002350 94 Cerebellar cyst

Cluster *95

HPO Cluster Description
HP:0000007 95 Autosomal recessive inheritance
HP:0003828 95 Variable expressivity
HP:0000218 95 High palate
HP:0002650 95 Scoliosis
HP:0003202 95 Skeletal muscle atrophy
HP:0003593 95 Infantile onset
HP:0003676 95 Progressive
HP:0003577 95 Congenital onset
HP:0001319 95 Neonatal hypotonia
HP:0001371 95 Flexion contracture
HP:0003560 95 Muscular dystrophy
HP:0001321 95 Cerebellar hypoplasia
HP:0002878 95 Respiratory failure
HP:0011968 95 Feeding difficulties
HP:0001558 95 Decreased fetal movement
HP:0002093 95 Respiratory insufficiency
HP:0002058 95 Myopathic facies
HP:0002490 95 Increased CSF lactate
HP:0002421 95 Poor head control
HP:0031882 95 Agyria
HP:0008972 95 Decreased activity of mitochondrial respiratory chain
HP:0002350 95 Cerebellar cyst

Cluster *96

HPO Cluster Description
HP:0001762 96 Talipes equinovarus
HP:0001270 96 Motor delay
HP:0002938 96 Lumbar hyperlordosis
HP:0002650 96 Scoliosis
HP:0002751 96 Kyphoscoliosis
HP:0003418 96 Back pain
HP:0003325 96 Limb-girdle muscle weakness
HP:0003701 96 Proximal muscle weakness
HP:0010628 96 Facial palsy
HP:0002515 96 Waddling gait
HP:0003551 96 Difficulty climbing stairs
HP:0032341 96 Reduced forced vital capacity

Cluster *98

HPO Cluster Description
HP:0001270 98 Motor delay
HP:0001761 98 Pes cavus
HP:0001284 98 Areflexia
HP:0003431 98 Decreased motor nerve conduction velocity
HP:0007340 98 Lower limb muscle weakness
HP:0003448 98 Decreased sensory nerve conduction velocity
HP:0000763 98 Sensory neuropathy
HP:0007178 98 Motor polyneuropathy
HP:0003444 98 EMG: chronic denervation signs
HP:0007182 98 Peripheral hypomyelination

Cluster *99

HPO Cluster Description
HP:0009830 99 Peripheral neuropathy
HP:0003581 99 Adult onset
HP:0000975 99 Hyperhidrosis
HP:0001605 99 Vocal cord paralysis
HP:0003390 99 Sensory axonal neuropathy

Cluster *100

HPO Cluster Description
HP:0001762 100 Talipes equinovarus
HP:0002804 100 Arthrogryposis multiplex congenita
HP:0002878 100 Respiratory failure
HP:0007269 100 Spinal muscular atrophy
HP:0001558 100 Decreased fetal movement
HP:0009110 100 Diaphragmatic eventration
HP:0006597 100 Diaphragmatic paralysis
HP:0006829 100 Severe muscular hypotonia

Cluster *101

HPO Cluster Description
HP:0003477 101 Peripheral axonal neuropathy
HP:0001761 101 Pes cavus
HP:0003693 101 Distal amyotrophy
HP:0002460 101 Distal muscle weakness
HP:0002936 101 Distal sensory impairment
HP:0001868 101 Autoamputation of foot
HP:0001886 101 Foot osteomyelitis
HP:0003387 101 Decreased number of large peripheral myelinated nerve fibers
HP:0003448 101 Decreased sensory nerve conduction velocity
HP:0006984 101 Distal sensory loss of all modalities
HP:0007267 101 Chronic axonal neuropathy

Cluster *102

HPO Cluster Description
HP:0003593 102 Infantile onset
HP:0002922 102 Increased CSF protein
HP:0000970 102 Anhidrosis
HP:0002661 102 Painless fractures due to injury
HP:0007021 102 Pain insensitivity
HP:0006121 102 Acral ulceration

Cluster *103

HPO Cluster Description
HP:0001270 103 Motor delay
HP:0009830 103 Peripheral neuropathy
HP:0003828 103 Variable expressivity
HP:0003202 103 Skeletal muscle atrophy
HP:0003676 103 Progressive
HP:0003581 103 Adult onset
HP:0002015 103 Dysphagia
HP:0001265 103 Hyporeflexia
HP:0003477 103 Peripheral axonal neuropathy
HP:0001761 103 Pes cavus
HP:0003693 103 Distal amyotrophy
HP:0003690 103 Limb muscle weakness
HP:0003701 103 Proximal muscle weakness
HP:0010628 103 Facial palsy
HP:0001371 103 Flexion contracture
HP:0001284 103 Areflexia
HP:0002460 103 Distal muscle weakness
HP:0002936 103 Distal sensory impairment
HP:0003458 103 EMG: myopathic abnormalities
HP:0003200 103 Ragged-red muscle fibers
HP:0001618 103 Dysphonia
HP:0003390 103 Sensory axonal neuropathy
HP:0000590 103 Progressive external ophthalmoplegia
HP:0003323 103 Progressive muscle weakness
HP:0003548 103 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 103 Cytochrome C oxidase-negative muscle fibers
HP:0003391 103 Gowers sign
HP:0003306 103 Spinal rigidity
HP:0003444 103 EMG: chronic denervation signs
HP:0009025 103 Increased connective tissue
HP:0007141 103 Sensorimotor neuropathy
HP:0006937 103 Impaired distal tactile sensation

Cluster *104

HPO Cluster Description
HP:0003676 104 Progressive
HP:0001265 104 Hyporeflexia
HP:0003477 104 Peripheral axonal neuropathy
HP:0002380 104 Fasciculations
HP:0003394 104 Muscle spasm
HP:0002804 104 Arthrogryposis multiplex congenita
HP:0001761 104 Pes cavus
HP:0003677 104 Slow progression
HP:0003693 104 Distal amyotrophy
HP:0003701 104 Proximal muscle weakness
HP:0003307 104 Hyperlordosis
HP:0001284 104 Areflexia
HP:0002460 104 Distal muscle weakness
HP:0002936 104 Distal sensory impairment
HP:0009027 104 Foot dorsiflexor weakness
HP:0003557 104 Increased variability in muscle fiber diameter
HP:0002515 104 Waddling gait
HP:0002878 104 Respiratory failure
HP:0002355 104 Difficulty walking
HP:0007269 104 Spinal muscular atrophy
HP:0001308 104 Tongue fasciculations
HP:0009046 104 Difficulty running
HP:0001558 104 Decreased fetal movement
HP:0002747 104 Respiratory insufficiency due to muscle weakness
HP:0007126 104 Proximal amyotrophy
HP:0006829 104 Severe muscular hypotonia

Cluster *106

HPO Cluster Description
HP:0001324 106 Muscle weakness
HP:0002145 106 Frontotemporal dementia
HP:0003687 106 Centrally nucleated skeletal muscle fibers
HP:0100295 106 Muscle fiber atrophy

Cluster *107

HPO Cluster Description
HP:0001270 107 Motor delay
HP:0000218 107 High palate
HP:0001283 107 Bulbar palsy
HP:0001265 107 Hyporeflexia
HP:0001761 107 Pes cavus
HP:0003693 107 Distal amyotrophy
HP:0003690 107 Limb muscle weakness
HP:0003701 107 Proximal muscle weakness
HP:0003307 107 Hyperlordosis
HP:0010628 107 Facial palsy
HP:0001319 107 Neonatal hypotonia
HP:0003324 107 Generalized muscle weakness
HP:0003798 107 Nemaline bodies
HP:0003803 107 Type 1 muscle fiber predominance
HP:0001284 107 Areflexia
HP:0001765 107 Hammertoe
HP:0002460 107 Distal muscle weakness
HP:0003376 107 Steppage gait
HP:0003621 107 Juvenile onset
HP:0003458 107 EMG: myopathic abnormalities
HP:0003200 107 Ragged-red muscle fibers
HP:0003557 107 Increased variability in muscle fiber diameter
HP:0001533 107 Slender build
HP:0002515 107 Waddling gait
HP:0003388 107 Easy fatigability
HP:0003390 107 Sensory axonal neuropathy
HP:0003691 107 Scapular winging
HP:0000590 107 Progressive external ophthalmoplegia
HP:0003548 107 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 107 Cytochrome C oxidase-negative muscle fibers
HP:0003713 107 Muscle fiber necrosis
HP:0006886 107 Impaired distal vibration sensation
HP:0002747 107 Respiratory insufficiency due to muscle weakness
HP:0003391 107 Gowers sign
HP:0000467 107 Neck muscle weakness
HP:0008180 107 Mildly elevated creatine kinase
HP:0002058 107 Myopathic facies
HP:0003306 107 Spinal rigidity
HP:0003722 107 Neck flexor weakness
HP:0003810 107 Late-onset distal muscle weakness
HP:0000597 107 Ophthalmoparesis
HP:0003473 107 Fatigable weakness
HP:0002403 107 Positive Romberg sign
HP:0003434 107 Sensory ataxic neuropathy

Cluster *108

HPO Cluster Description
HP:0002650 108 Scoliosis
HP:0001265 108 Hyporeflexia
HP:0003693 108 Distal amyotrophy
HP:0010628 108 Facial palsy
HP:0001284 108 Areflexia
HP:0002936 108 Distal sensory impairment
HP:0004336 108 Myelin outfoldings
HP:0000762 108 Decreased nerve conduction velocity
HP:0003700 108 Generalized amyotrophy
HP:0007182 108 Peripheral hypomyelination
HP:0007108 108 Demyelinating peripheral neuropathy

Cluster *109

HPO Cluster Description
HP:0003394 109 Muscle spasm
HP:0003201 109 Rhabdomyolysis
HP:0003546 109 Exercise intolerance
HP:0003552 109 Muscle stiffness
HP:0002913 109 Myoglobinuria
HP:0002600 109 Hyporeflexia of lower limbs
HP:0009046 109 Difficulty running
HP:0003738 109 Exercise-induced myalgia
HP:0009005 109 Weakness of the intrinsic hand muscles
HP:0009063 109 Progressive distal muscle weakness
HP:0100303 109 Muscle fiber cytoplasmatic inclusion bodies

Cluster *110

HPO Cluster Description
HP:0001270 110 Motor delay
HP:0010628 110 Facial palsy
HP:0001371 110 Flexion contracture
HP:0003324 110 Generalized muscle weakness
HP:0002359 110 Frequent falls
HP:0002355 110 Difficulty walking
HP:0002111 110 Restrictive deficit on pulmonary function testing
HP:0003547 110 Shoulder girdle muscle weakness
HP:0008981 110 Calf muscle hypertrophy
HP:0003749 110 Pelvic girdle muscle weakness
HP:0007126 110 Proximal amyotrophy
HP:0003551 110 Difficulty climbing stairs
HP:0001771 110 Achilles tendon contracture
HP:0040083 110 Toe walking
HP:0003733 110 Thigh hypertrophy
HP:0003327 110 Axial muscle weakness
HP:0003787 110 Type 1 and type 2 muscle fiber minicore regions

Cluster *111

HPO Cluster Description
HP:0000007 111 Autosomal recessive inheritance
HP:0000508 111 Ptosis
HP:0003593 111 Infantile onset
HP:0011675 111 Arrhythmia
HP:0001561 111 Polyhydramnios
HP:0003198 111 Myopathy
HP:0001639 111 Hypertrophic cardiomyopathy
HP:0001644 111 Dilated cardiomyopathy
HP:0003577 111 Congenital onset
HP:0003458 111 EMG: myopathic abnormalities
HP:0003200 111 Ragged-red muscle fibers
HP:0003546 111 Exercise intolerance
HP:0002747 111 Respiratory insufficiency due to muscle weakness
HP:0002093 111 Respiratory insufficiency
HP:0003704 111 Scapuloperoneal weakness
HP:0003700 111 Generalized amyotrophy
HP:0002878 111 Respiratory failure

Cluster *112

HPO Cluster Description
HP:0005348 112 Inspiratory stridor
HP:0100295 112 Muscle fiber atrophy
HP:0009110 112 Diaphragmatic eventration
HP:0006597 112 Diaphragmatic paralysis

Cluster *113

HPO Cluster Description
HP:0001155 113 Abnormality of the hand
HP:0100295 113 Muscle fiber atrophy
HP:0003447 113 Axonal loss
HP:0007149 113 Distal upper limb amyotrophy

Cluster *114

HPO Cluster Description
HP:0001270 114 Motor delay
HP:0003701 114 Proximal muscle weakness
HP:0003307 114 Hyperlordosis
HP:0010628 114 Facial palsy
HP:0001319 114 Neonatal hypotonia
HP:0001371 114 Flexion contracture
HP:0003324 114 Generalized muscle weakness
HP:0003798 114 Nemaline bodies
HP:0003803 114 Type 1 muscle fiber predominance
HP:0001612 114 Weak cry
HP:0003458 114 EMG: myopathic abnormalities
HP:0003200 114 Ragged-red muscle fibers
HP:0003557 114 Increased variability in muscle fiber diameter
HP:0001618 114 Dysphonia
HP:0002515 114 Waddling gait
HP:0002359 114 Frequent falls
HP:0003323 114 Progressive muscle weakness
HP:0003688 114 Cytochrome C oxidase-negative muscle fibers
HP:0003713 114 Muscle fiber necrosis
HP:0002355 114 Difficulty walking
HP:0002747 114 Respiratory insufficiency due to muscle weakness
HP:0000467 114 Neck muscle weakness
HP:0003554 114 Type 2 muscle fiber atrophy
HP:0002058 114 Myopathic facies
HP:0003306 114 Spinal rigidity
HP:0003722 114 Neck flexor weakness
HP:0003810 114 Late-onset distal muscle weakness
HP:0002033 114 Poor suck
HP:0002715 114 Abnormality of the immune system
HP:0003741 114 Congenital muscular dystrophy
HP:0000597 114 Ophthalmoparesis
HP:0002872 114 Apneic episodes precipitated by illness, fatigue, stress
HP:0002882 114 Sudden episodic apnea
HP:0003397 114 Generalized hypotonia due to defect at the neuromuscular junction
HP:0003402 114 Decreased miniature endplate potentials
HP:0003403 114 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 114 Fatigable weakness
HP:0003443 114 Decreased size of nerve terminals

Cluster *116

HPO Cluster Description
HP:0001270 116 Motor delay
HP:0000508 116 Ptosis
HP:0000218 116 High palate
HP:0002650 116 Scoliosis
HP:0001283 116 Bulbar palsy
HP:0001265 116 Hyporeflexia
HP:0003477 116 Peripheral axonal neuropathy
HP:0002804 116 Arthrogryposis multiplex congenita
HP:0001561 116 Polyhydramnios
HP:0003690 116 Limb muscle weakness
HP:0003701 116 Proximal muscle weakness
HP:0003307 116 Hyperlordosis
HP:0010628 116 Facial palsy
HP:0001319 116 Neonatal hypotonia
HP:0001371 116 Flexion contracture
HP:0003324 116 Generalized muscle weakness
HP:0003798 116 Nemaline bodies
HP:0001284 116 Areflexia
HP:0001612 116 Weak cry
HP:0003458 116 EMG: myopathic abnormalities
HP:0003737 116 Mitochondrial myopathy
HP:0001427 116 Mitochondrial inheritance
HP:0003200 116 Ragged-red muscle fibers
HP:0003557 116 Increased variability in muscle fiber diameter
HP:0001618 116 Dysphonia
HP:0003388 116 Easy fatigability
HP:0000590 116 Progressive external ophthalmoplegia
HP:0003323 116 Progressive muscle weakness
HP:0003548 116 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 116 Cytochrome C oxidase-negative muscle fibers
HP:0003713 116 Muscle fiber necrosis
HP:0006886 116 Impaired distal vibration sensation
HP:0002747 116 Respiratory insufficiency due to muscle weakness
HP:0000467 116 Neck muscle weakness
HP:0003554 116 Type 2 muscle fiber atrophy
HP:0002058 116 Myopathic facies
HP:0002033 116 Poor suck
HP:0002715 116 Abnormality of the immune system
HP:0003700 116 Generalized amyotrophy
HP:0002490 116 Increased CSF lactate
HP:0000597 116 Ophthalmoparesis
HP:0002872 116 Apneic episodes precipitated by illness, fatigue, stress
HP:0002882 116 Sudden episodic apnea
HP:0003397 116 Generalized hypotonia due to defect at the neuromuscular junction
HP:0003402 116 Decreased miniature endplate potentials
HP:0003403 116 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 116 Fatigable weakness
HP:0003434 116 Sensory ataxic neuropathy
HP:0002579 116 Gastrointestinal dysmotility
HP:0004326 116 Cachexia
HP:0003436 116 Prolonged miniature endplate currents
HP:0003443 116 Decreased size of nerve terminals

Cluster *117

HPO Cluster Description
HP:0001302 117 Pachygyria
HP:0001270 117 Motor delay
HP:0000557 117 Buphthalmos
HP:0003828 117 Variable expressivity
HP:0000518 117 Cataract
HP:0003581 117 Adult onset
HP:0001265 117 Hyporeflexia
HP:0001324 117 Muscle weakness
HP:0003677 117 Slow progression
HP:0003325 117 Limb-girdle muscle weakness
HP:0003701 117 Proximal muscle weakness
HP:0003307 117 Hyperlordosis
HP:0010628 117 Facial palsy
HP:0003577 117 Congenital onset
HP:0001371 117 Flexion contracture
HP:0003324 117 Generalized muscle weakness
HP:0003326 117 Myalgia
HP:0003458 117 EMG: myopathic abnormalities
HP:0003560 117 Muscular dystrophy
HP:0003557 117 Increased variability in muscle fiber diameter
HP:0001321 117 Cerebellar hypoplasia
HP:0002515 117 Waddling gait
HP:0003691 117 Scapular winging
HP:0002355 117 Difficulty walking
HP:0009046 117 Difficulty running
HP:0002747 117 Respiratory insufficiency due to muscle weakness
HP:0003547 117 Shoulder girdle muscle weakness
HP:0003724 117 Shoulder girdle muscle atrophy
HP:0008981 117 Calf muscle hypertrophy
HP:0003749 117 Pelvic girdle muscle weakness
HP:0003391 117 Gowers sign
HP:0003687 117 Centrally nucleated skeletal muscle fibers
HP:0000467 117 Neck muscle weakness
HP:0003805 117 Rimmed vacuoles
HP:0002093 117 Respiratory insufficiency
HP:0007126 117 Proximal amyotrophy
HP:0003306 117 Spinal rigidity
HP:0003736 117 Autophagic vacuoles
HP:0003551 117 Difficulty climbing stairs
HP:0008988 117 Pelvic girdle muscle atrophy
HP:0003555 117 Muscle fiber splitting
HP:0002365 117 Hypoplasia of the brainstem
HP:0007973 117 Retinal dysplasia
HP:0012110 117 Hypoplasia of the pons
HP:0009025 117 Increased connective tissue
HP:0006829 117 Severe muscular hypotonia
HP:0003741 117 Congenital muscular dystrophy
HP:0007033 117 Cerebellar dysplasia
HP:0007260 117 Type II lissencephaly
HP:0031882 117 Agyria
HP:0002350 117 Cerebellar cyst
HP:0100614 117 Myositis
HP:0003707 117 Calf muscle pseudohypertrophy
HP:0009072 117 Decreased Achilles reflex
HP:0003327 117 Axial muscle weakness
HP:0003787 117 Type 1 and type 2 muscle fiber minicore regions
HP:0100297 117 Increased endomysial connective tissue
HP:0030046 117 Hypoglycosylation of alpha-dystroglycan

Cluster *118

HPO Cluster Description
HP:0001762 118 Talipes equinovarus
HP:0001265 118 Hyporeflexia
HP:0001611 118 Nasal speech
HP:0010628 118 Facial palsy
HP:0001284 118 Areflexia
HP:0003236 118 Elevated serum creatine kinase
HP:0001558 118 Decreased fetal movement
HP:0002093 118 Respiratory insufficiency
HP:0000764 118 Peripheral axonal degeneration
HP:0006597 118 Diaphragmatic paralysis

Cluster *119

HPO Cluster Description
HP:0001604 119 Vocal cord paresis
HP:0009113 119 Diaphragmatic weakness
HP:0010307 119 Stridor
HP:0011349 119 Abducens palsy
HP:0003444 119 EMG: chronic denervation signs
HP:0009130 119 Hand muscle atrophy
HP:0012246 119 Oculomotor nerve palsy
HP:0007230 119 Decreased distal sensory nerve action potential

Cluster *120

HPO Cluster Description
HP:0002021 120 Pyloric stenosis
HP:0002033 120 Poor suck
HP:0000508 120 Ptosis
HP:0000218 120 High palate
HP:0001611 120 Nasal speech
HP:0009588 120 Vestibular Schwannoma

Cluster *121

HPO Cluster Description
HP:0009830 121 Peripheral neuropathy
HP:0003674 121 Onset
HP:0002515 121 Waddling gait
HP:0001425 121 Heterogeneous
HP:0001265 121 Hyporeflexia
HP:0001761 121 Pes cavus
HP:0003677 121 Slow progression
HP:0003693 121 Distal amyotrophy
HP:0003701 121 Proximal muscle weakness
HP:0003324 121 Generalized muscle weakness
HP:0001284 121 Areflexia
HP:0001765 121 Hammertoe
HP:0002460 121 Distal muscle weakness
HP:0002936 121 Distal sensory impairment
HP:0003380 121 Decreased number of peripheral myelinated nerve fibers
HP:0003383 121 Onion bulb formation
HP:0009027 121 Foot dorsiflexor weakness
HP:0003378 121 Axonal degeneration/regeneration
HP:0003384 121 Peripheral axonal atrophy
HP:0003458 121 EMG: myopathic abnormalities
HP:0001604 121 Vocal cord paresis
HP:0003687 121 Centrally nucleated skeletal muscle fibers
HP:0003484 121 Upper limb muscle weakness

Cluster *122

HPO Cluster Description
HP:0002366 122 Abnormal lower motor neuron morphology
HP:0002460 122 Distal muscle weakness
HP:0001761 122 Pes cavus
HP:0003677 122 Slow progression
HP:0003693 122 Distal amyotrophy
HP:0008756 122 Bowing of the vocal cords
HP:0002483 122 Bulbar signs

Cluster *123

HPO Cluster Description
HP:0001302 123 Pachygyria
HP:0001270 123 Motor delay
HP:0003593 123 Infantile onset
HP:0008872 123 Feeding difficulties in infancy
HP:0003701 123 Proximal muscle weakness
HP:0003307 123 Hyperlordosis
HP:0010628 123 Facial palsy
HP:0001319 123 Neonatal hypotonia
HP:0001371 123 Flexion contracture
HP:0003324 123 Generalized muscle weakness
HP:0003326 123 Myalgia
HP:0003458 123 EMG: myopathic abnormalities
HP:0003557 123 Increased variability in muscle fiber diameter
HP:0001321 123 Cerebellar hypoplasia
HP:0002111 123 Restrictive deficit on pulmonary function testing
HP:0003547 123 Shoulder girdle muscle weakness
HP:0008981 123 Calf muscle hypertrophy
HP:0002093 123 Respiratory insufficiency
HP:0003306 123 Spinal rigidity
HP:0003551 123 Difficulty climbing stairs
HP:0001771 123 Achilles tendon contracture
HP:0002365 123 Hypoplasia of the brainstem
HP:0007973 123 Retinal dysplasia
HP:0003741 123 Congenital muscular dystrophy
HP:0007033 123 Cerebellar dysplasia
HP:0007260 123 Type II lissencephaly
HP:0031882 123 Agyria
HP:0002350 123 Cerebellar cyst
HP:0003733 123 Thigh hypertrophy

Cluster *124

HPO Cluster Description
HP:0003676 124 Progressive
HP:0005010 124 Osteomyelitis leading to amputation due to slow healing fractures
HP:0006957 124 Loss of ability to walk
HP:0003380 124 Decreased number of peripheral myelinated nerve fibers
HP:0007141 124 Sensorimotor neuropathy

Cluster *126

HPO Cluster Description
HP:0004336 126 Myelin outfoldings
HP:0011096 126 Peripheral demyelination
HP:0000522 126 Alacrima
HP:0007182 126 Peripheral hypomyelination
HP:0007108 126 Demyelinating peripheral neuropathy
HP:0004463 126 Absent brainstem auditory responses

Cluster *127

HPO Cluster Description
HP:0000218 127 High palate
HP:0002650 127 Scoliosis
HP:0001283 127 Bulbar palsy
HP:0003701 127 Proximal muscle weakness
HP:0003307 127 Hyperlordosis
HP:0010628 127 Facial palsy
HP:0001319 127 Neonatal hypotonia
HP:0003324 127 Generalized muscle weakness
HP:0003798 127 Nemaline bodies
HP:0003803 127 Type 1 muscle fiber predominance
HP:0003458 127 EMG: myopathic abnormalities
HP:0003737 127 Mitochondrial myopathy
HP:0003546 127 Exercise intolerance
HP:0001533 127 Slender build
HP:0002515 127 Waddling gait
HP:0004395 127 Malnutrition
HP:0000590 127 Progressive external ophthalmoplegia
HP:0002747 127 Respiratory insufficiency due to muscle weakness
HP:0002058 127 Myopathic facies
HP:0003306 127 Spinal rigidity
HP:0003722 127 Neck flexor weakness
HP:0003810 127 Late-onset distal muscle weakness
HP:0003700 127 Generalized amyotrophy
HP:0003434 127 Sensory ataxic neuropathy
HP:0002579 127 Gastrointestinal dysmotility
HP:0007103 127 Hypointensity of cerebral white matter on MRI
HP:0004326 127 Cachexia

Cluster *129

HPO Cluster Description
HP:0000975 129 Hyperhidrosis
HP:0001649 129 Tachycardia
HP:0001962 129 Palpitations
HP:0000522 129 Alacrima
HP:0001605 129 Vocal cord paralysis
HP:0003768 129 Periodic paralysis

Cluster *130

HPO Cluster Description
HP:0003581 130 Adult onset
HP:0003677 130 Slow progression
HP:0003325 130 Limb-girdle muscle weakness
HP:0002460 130 Distal muscle weakness
HP:0007340 130 Lower limb muscle weakness
HP:0009005 130 Weakness of the intrinsic hand muscles
HP:0003736 130 Autophagic vacuoles
HP:0003555 130 Muscle fiber splitting
HP:0003444 130 EMG: chronic denervation signs
HP:0003791 130 Deposits immunoreactive to beta-amyloid protein
HP:0009072 130 Decreased Achilles reflex

Cluster *132

HPO Cluster Description
HP:0002398 132 Degeneration of anterior horn cells
HP:0003677 132 Slow progression
HP:0003701 132 Proximal muscle weakness
HP:0010628 132 Facial palsy
HP:0002515 132 Waddling gait
HP:0003388 132 Easy fatigability
HP:0003691 132 Scapular winging
HP:0002359 132 Frequent falls
HP:0002355 132 Difficulty walking
HP:0008981 132 Calf muscle hypertrophy
HP:0001308 132 Tongue fasciculations
HP:0003391 132 Gowers sign
HP:0000467 132 Neck muscle weakness
HP:0008180 132 Mildly elevated creatine kinase
HP:0007126 132 Proximal amyotrophy
HP:0003555 132 Muscle fiber splitting
HP:0002378 132 Hand tremor
HP:0000597 132 Ophthalmoparesis
HP:0003473 132 Fatigable weakness

Cluster *133

HPO Cluster Description
HP:0003724 133 Shoulder girdle muscle atrophy
HP:0003749 133 Pelvic girdle muscle weakness
HP:0008955 133 Progressive distal muscular atrophy
HP:0003722 133 Neck flexor weakness
HP:0003555 133 Muscle fiber splitting
HP:0009113 133 Diaphragmatic weakness
HP:0009130 133 Hand muscle atrophy
HP:0003697 133 Scapuloperoneal amyotrophy
HP:0011349 133 Abducens palsy
HP:0002877 133 Nocturnal hypoventilation
HP:0003731 133 Quadriceps muscle weakness
HP:0003715 133 Myofibrillar myopathy
HP:0002792 133 Reduced vital capacity

Cluster *134

HPO Cluster Description
HP:0003418 134 Back pain
HP:0011675 134 Arrhythmia
HP:0001288 134 Gait disturbance
HP:0003198 134 Myopathy
HP:0003701 134 Proximal muscle weakness
HP:0003236 134 Elevated serum creatine kinase
HP:0003691 134 Scapular winging
HP:0003805 134 Rimmed vacuoles
HP:0008988 134 Pelvic girdle muscle atrophy
HP:0003704 134 Scapuloperoneal weakness

Cluster *135

HPO Cluster Description
HP:0001324 135 Muscle weakness
HP:0002486 135 Myotonia
HP:0002047 135 Malignant hyperthermia
HP:0006958 135 Abnormal auditory evoked potentials
HP:0003044 135 Shoulder flexion contracture

Cluster *136

HPO Cluster Description
HP:0003198 136 Myopathy
HP:0003701 136 Proximal muscle weakness
HP:0003805 136 Rimmed vacuoles
HP:0006785 136 Limb-girdle muscular dystrophy
HP:0002803 136 Congenital contracture
HP:0100299 136 Muscle fiber inclusion bodies

Cluster *137

HPO Cluster Description
HP:0003828 137 Variable expressivity
HP:0001283 137 Bulbar palsy
HP:0001260 137 Dysarthria
HP:0002936 137 Distal sensory impairment
HP:0000762 137 Decreased nerve conduction velocity
HP:0000590 137 Progressive external ophthalmoplegia
HP:0002500 137 Abnormality of the cerebral white matter
HP:0001771 137 Achilles tendon contracture
HP:0040083 137 Toe walking

Cluster *139

HPO Cluster Description
HP:0001638 139 Cardiomyopathy
HP:0001265 139 Hyporeflexia
HP:0001761 139 Pes cavus
HP:0003677 139 Slow progression
HP:0001284 139 Areflexia
HP:0002460 139 Distal muscle weakness
HP:0002936 139 Distal sensory impairment
HP:0003376 139 Steppage gait
HP:0003390 139 Sensory axonal neuropathy
HP:0003200 139 Ragged-red muscle fibers
HP:0003546 139 Exercise intolerance
HP:0001618 139 Dysphonia
HP:0000590 139 Progressive external ophthalmoplegia
HP:0003323 139 Progressive muscle weakness
HP:0003548 139 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 139 Cytochrome C oxidase-negative muscle fibers
HP:0003713 139 Muscle fiber necrosis
HP:0002403 139 Positive Romberg sign
HP:0003434 139 Sensory ataxic neuropathy
HP:0003484 139 Upper limb muscle weakness

Cluster *140

HPO Cluster Description
HP:0000007 140 Autosomal recessive inheritance
HP:0003202 140 Skeletal muscle atrophy
HP:0003593 140 Infantile onset
HP:0003676 140 Progressive
HP:0001639 140 Hypertrophic cardiomyopathy
HP:0003577 140 Congenital onset
HP:0003128 140 Lactic acidosis
HP:0002878 140 Respiratory failure
HP:0011968 140 Feeding difficulties
HP:0002033 140 Poor suck
HP:0002490 140 Increased CSF lactate
HP:0008972 140 Decreased activity of mitochondrial respiratory chain

Cluster *141

HPO Cluster Description
HP:0000007 141 Autosomal recessive inheritance
HP:0001302 141 Pachygyria
HP:0001270 141 Motor delay
HP:0000518 141 Cataract
HP:0003676 141 Progressive
HP:0001260 141 Dysarthria
HP:0002804 141 Arthrogryposis multiplex congenita
HP:0001561 141 Polyhydramnios
HP:0001319 141 Neonatal hypotonia
HP:0001371 141 Flexion contracture
HP:0003324 141 Generalized muscle weakness
HP:0003236 141 Elevated serum creatine kinase
HP:0003560 141 Muscular dystrophy
HP:0003546 141 Exercise intolerance
HP:0011968 141 Feeding difficulties
HP:0003391 141 Gowers sign
HP:0002093 141 Respiratory insufficiency
HP:0002365 141 Hypoplasia of the brainstem
HP:0002803 141 Congenital contracture
HP:0012110 141 Hypoplasia of the pons
HP:0003741 141 Congenital muscular dystrophy
HP:0007033 141 Cerebellar dysplasia
HP:0007260 141 Type II lissencephaly
HP:0002350 141 Cerebellar cyst
HP:0000597 141 Ophthalmoparesis
HP:0003473 141 Fatigable weakness

Cluster *142

HPO Cluster Description
HP:0001270 142 Motor delay
HP:0002650 142 Scoliosis
HP:0003198 142 Myopathy
HP:0008994 142 Proximal muscle weakness in lower limbs
HP:0007941 142 Limited extraocular movements

Cluster *143

HPO Cluster Description
HP:0000007 143 Autosomal recessive inheritance
HP:0003828 143 Variable expressivity
HP:0000218 143 High palate
HP:0001288 143 Gait disturbance
HP:0001761 143 Pes cavus
HP:0003677 143 Slow progression
HP:0003325 143 Limb-girdle muscle weakness
HP:0001284 143 Areflexia
HP:0002936 143 Distal sensory impairment
HP:0003560 143 Muscular dystrophy
HP:0003691 143 Scapular winging
HP:0006466 143 Ankle flexion contracture

Cluster *144

HPO Cluster Description
HP:0001283 144 Bulbar palsy
HP:0001265 144 Hyporeflexia
HP:0003394 144 Muscle spasm
HP:0000158 144 Macroglossia
HP:0001761 144 Pes cavus
HP:0003677 144 Slow progression
HP:0003701 144 Proximal muscle weakness
HP:0003307 144 Hyperlordosis
HP:0010628 144 Facial palsy
HP:0003324 144 Generalized muscle weakness
HP:0001284 144 Areflexia
HP:0002936 144 Distal sensory impairment
HP:0009027 144 Foot dorsiflexor weakness
HP:0003326 144 Myalgia
HP:0003737 144 Mitochondrial myopathy
HP:0003201 144 Rhabdomyolysis
HP:0003546 144 Exercise intolerance
HP:0002515 144 Waddling gait
HP:0003388 144 Easy fatigability
HP:0002913 144 Myoglobinuria
HP:0002359 144 Frequent falls
HP:0002355 144 Difficulty walking
HP:0009046 144 Difficulty running
HP:0002111 144 Restrictive deficit on pulmonary function testing
HP:0003547 144 Shoulder girdle muscle weakness
HP:0008981 144 Calf muscle hypertrophy
HP:0003391 144 Gowers sign
HP:0008180 144 Mildly elevated creatine kinase
HP:0003554 144 Type 2 muscle fiber atrophy
HP:0007126 144 Proximal amyotrophy
HP:0003551 144 Difficulty climbing stairs
HP:0002715 144 Abnormality of the immune system
HP:0001771 144 Achilles tendon contracture
HP:0003741 144 Congenital muscular dystrophy
HP:0040083 144 Toe walking
HP:0000597 144 Ophthalmoparesis
HP:0003403 144 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 144 Fatigable weakness
HP:0003733 144 Thigh hypertrophy

Cluster *145

HPO Cluster Description
HP:0003445 145 EMG: neuropathic changes
HP:0007269 145 Spinal muscular atrophy
HP:0008994 145 Proximal muscle weakness in lower limbs
HP:0009046 145 Difficulty running
HP:0011808 145 Decreased patellar reflex
HP:0008956 145 Proximal lower limb amyotrophy
HP:0002093 145 Respiratory insufficiency
HP:0003551 145 Difficulty climbing stairs

Cluster *147

HPO Cluster Description
HP:0001270 147 Motor delay
HP:0009830 147 Peripheral neuropathy
HP:0003828 147 Variable expressivity
HP:0002359 147 Frequent falls
HP:0003593 147 Infantile onset
HP:0001283 147 Bulbar palsy
HP:0001265 147 Hyporeflexia
HP:0002804 147 Arthrogryposis multiplex congenita
HP:0001761 147 Pes cavus
HP:0003693 147 Distal amyotrophy
HP:0003701 147 Proximal muscle weakness
HP:0010628 147 Facial palsy
HP:0003577 147 Congenital onset
HP:0001371 147 Flexion contracture
HP:0001178 147 Ulnar claw
HP:0001284 147 Areflexia
HP:0001765 147 Hammertoe
HP:0002460 147 Distal muscle weakness
HP:0002936 147 Distal sensory impairment
HP:0003376 147 Steppage gait
HP:0003382 147 Hypertrophic nerve changes
HP:0003383 147 Onion bulb formation
HP:0003431 147 Decreased motor nerve conduction velocity
HP:0003449 147 Cold-induced muscle cramps
HP:0004336 147 Myelin outfoldings
HP:0009027 147 Foot dorsiflexor weakness
HP:0003481 147 Segmental peripheral demyelination/remyelination
HP:0002355 147 Difficulty walking
HP:0001558 147 Decreased fetal movement
HP:0002747 147 Respiratory insufficiency due to muscle weakness
HP:0003547 147 Shoulder girdle muscle weakness
HP:0008981 147 Calf muscle hypertrophy
HP:0002093 147 Respiratory insufficiency
HP:0003551 147 Difficulty climbing stairs
HP:0001771 147 Achilles tendon contracture
HP:0003741 147 Congenital muscular dystrophy
HP:0003733 147 Thigh hypertrophy

Cluster *148

HPO Cluster Description
HP:0003202 148 Skeletal muscle atrophy
HP:0001265 148 Hyporeflexia
HP:0003477 148 Peripheral axonal neuropathy
HP:0008872 148 Feeding difficulties in infancy
HP:0000602 148 Ophthalmoplegia
HP:0003693 148 Distal amyotrophy
HP:0002460 148 Distal muscle weakness
HP:0002936 148 Distal sensory impairment
HP:0003431 148 Decreased motor nerve conduction velocity
HP:0001349 148 Facial diplegia
HP:0002515 148 Waddling gait
HP:0001760 148 Abnormality of the foot
HP:0003445 148 EMG: neuropathic changes
HP:0002093 148 Respiratory insufficiency

Cluster *149

HPO Cluster Description
HP:0001762 149 Talipes equinovarus
HP:0001252 149 Muscular hypotonia
HP:0001270 149 Motor delay
HP:0003828 149 Variable expressivity
HP:0000218 149 High palate
HP:0002650 149 Scoliosis
HP:0000158 149 Macroglossia
HP:0000518 149 Cataract
HP:0001265 149 Hyporeflexia
HP:0003477 149 Peripheral axonal neuropathy
HP:0002804 149 Arthrogryposis multiplex congenita
HP:0001761 149 Pes cavus
HP:0001561 149 Polyhydramnios
HP:0003693 149 Distal amyotrophy
HP:0003198 149 Myopathy
HP:0003690 149 Limb muscle weakness
HP:0003701 149 Proximal muscle weakness
HP:0003307 149 Hyperlordosis
HP:0010628 149 Facial palsy
HP:0003577 149 Congenital onset
HP:0001319 149 Neonatal hypotonia
HP:0001371 149 Flexion contracture
HP:0003324 149 Generalized muscle weakness
HP:0003798 149 Nemaline bodies
HP:0003803 149 Type 1 muscle fiber predominance
HP:0001284 149 Areflexia
HP:0002460 149 Distal muscle weakness
HP:0002936 149 Distal sensory impairment
HP:0003431 149 Decreased motor nerve conduction velocity
HP:0009027 149 Foot dorsiflexor weakness
HP:0003458 149 EMG: myopathic abnormalities
HP:0003557 149 Increased variability in muscle fiber diameter
HP:0002515 149 Waddling gait
HP:0007340 149 Lower limb muscle weakness
HP:0003691 149 Scapular winging
HP:0002359 149 Frequent falls
HP:0001604 149 Vocal cord paresis
HP:0002355 149 Difficulty walking
HP:0002747 149 Respiratory insufficiency due to muscle weakness
HP:0002111 149 Restrictive deficit on pulmonary function testing
HP:0008981 149 Calf muscle hypertrophy
HP:0003391 149 Gowers sign
HP:0003687 149 Centrally nucleated skeletal muscle fibers
HP:0000467 149 Neck muscle weakness
HP:0002058 149 Myopathic facies
HP:0003306 149 Spinal rigidity
HP:0003387 149 Decreased number of large peripheral myelinated nerve fibers
HP:0003448 149 Decreased sensory nerve conduction velocity
HP:0002803 149 Congenital contracture
HP:0002877 149 Nocturnal hypoventilation
HP:0006829 149 Severe muscular hypotonia
HP:0003741 149 Congenital muscular dystrophy
HP:0002350 149 Cerebellar cyst
HP:0032341 149 Reduced forced vital capacity
HP:0003733 149 Thigh hypertrophy

Cluster *150

HPO Cluster Description
HP:0000007 150 Autosomal recessive inheritance
HP:0009830 150 Peripheral neuropathy
HP:0003828 150 Variable expressivity
HP:0003593 150 Infantile onset
HP:0003676 150 Progressive
HP:0001324 150 Muscle weakness
HP:0000602 150 Ophthalmoplegia
HP:0003198 150 Myopathy
HP:0001639 150 Hypertrophic cardiomyopathy
HP:0003577 150 Congenital onset
HP:0001319 150 Neonatal hypotonia
HP:0003737 150 Mitochondrial myopathy
HP:0001414 150 Microvesicular hepatic steatosis
HP:0001427 150 Mitochondrial inheritance
HP:0003128 150 Lactic acidosis
HP:0003200 150 Ragged-red muscle fibers
HP:0003201 150 Rhabdomyolysis
HP:0003546 150 Exercise intolerance
HP:0002878 150 Respiratory failure
HP:0011968 150 Feeding difficulties
HP:0002913 150 Myoglobinuria
HP:0003323 150 Progressive muscle weakness
HP:0003548 150 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 150 Cytochrome C oxidase-negative muscle fibers
HP:0002747 150 Respiratory insufficiency due to muscle weakness
HP:0002093 150 Respiratory insufficiency
HP:0001924 150 Sideroblastic anemia
HP:0008972 150 Decreased activity of mitochondrial respiratory chain
HP:0008322 150 Abnormal mitochondrial morphology
HP:0002134 150 Abnormality of the basal ganglia
HP:0004326 150 Cachexia
HP:0008945 150 Loss of ability to walk in early childhood

Cluster *151

HPO Cluster Description
HP:0001265 151 Hyporeflexia
HP:0003677 151 Slow progression
HP:0008956 151 Proximal lower limb amyotrophy
HP:0008994 151 Proximal muscle weakness in lower limbs
HP:0006785 151 Limb-girdle muscular dystrophy
HP:0002127 151 Abnormal upper motor neuron morphology
HP:0000759 151 Abnormal peripheral nervous system morphology
HP:0030237 151 Hand muscle weakness

Cluster *152

HPO Cluster Description
HP:0009830 152 Peripheral neuropathy
HP:0003828 152 Variable expressivity
HP:0001171 152 Split hand
HP:0001425 152 Heterogeneous
HP:0001283 152 Bulbar palsy
HP:0001265 152 Hyporeflexia
HP:0001761 152 Pes cavus
HP:0003693 152 Distal amyotrophy
HP:0003690 152 Limb muscle weakness
HP:0003701 152 Proximal muscle weakness
HP:0003307 152 Hyperlordosis
HP:0010628 152 Facial palsy
HP:0003324 152 Generalized muscle weakness
HP:0003798 152 Nemaline bodies
HP:0003803 152 Type 1 muscle fiber predominance
HP:0001178 152 Ulnar claw
HP:0001284 152 Areflexia
HP:0001765 152 Hammertoe
HP:0002460 152 Distal muscle weakness
HP:0002936 152 Distal sensory impairment
HP:0003376 152 Steppage gait
HP:0003380 152 Decreased number of peripheral myelinated nerve fibers
HP:0003382 152 Hypertrophic nerve changes
HP:0003383 152 Onion bulb formation
HP:0003431 152 Decreased motor nerve conduction velocity
HP:0003449 152 Cold-induced muscle cramps
HP:0004336 152 Myelin outfoldings
HP:0009027 152 Foot dorsiflexor weakness
HP:0003378 152 Axonal degeneration/regeneration
HP:0003384 152 Peripheral axonal atrophy
HP:0001612 152 Weak cry
HP:0003458 152 EMG: myopathic abnormalities
HP:0003200 152 Ragged-red muscle fibers
HP:0003546 152 Exercise intolerance
HP:0001533 152 Slender build
HP:0002515 152 Waddling gait
HP:0003390 152 Sensory axonal neuropathy
HP:0002359 152 Frequent falls
HP:0000590 152 Progressive external ophthalmoplegia
HP:0003323 152 Progressive muscle weakness
HP:0003548 152 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 152 Cytochrome C oxidase-negative muscle fibers
HP:0001604 152 Vocal cord paresis
HP:0002355 152 Difficulty walking
HP:0009046 152 Difficulty running
HP:0002747 152 Respiratory insufficiency due to muscle weakness
HP:0000467 152 Neck muscle weakness
HP:0003554 152 Type 2 muscle fiber atrophy
HP:0002058 152 Myopathic facies
HP:0003306 152 Spinal rigidity
HP:0003722 152 Neck flexor weakness
HP:0003810 152 Late-onset distal muscle weakness
HP:0003387 152 Decreased number of large peripheral myelinated nerve fibers
HP:0003551 152 Difficulty climbing stairs
HP:0003700 152 Generalized amyotrophy
HP:0000597 152 Ophthalmoparesis
HP:0003403 152 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 152 Fatigable weakness

Cluster *153

HPO Cluster Description
HP:0003676 153 Progressive
HP:0003581 153 Adult onset
HP:0001265 153 Hyporeflexia
HP:0001761 153 Pes cavus
HP:0002015 153 Dysphagia
HP:0003693 153 Distal amyotrophy
HP:0003701 153 Proximal muscle weakness
HP:0003307 153 Hyperlordosis
HP:0010628 153 Facial palsy
HP:0001319 153 Neonatal hypotonia
HP:0003324 153 Generalized muscle weakness
HP:0003798 153 Nemaline bodies
HP:0003803 153 Type 1 muscle fiber predominance
HP:0001284 153 Areflexia
HP:0002460 153 Distal muscle weakness
HP:0002936 153 Distal sensory impairment
HP:0003458 153 EMG: myopathic abnormalities
HP:0003557 153 Increased variability in muscle fiber diameter
HP:0001533 153 Slender build
HP:0002515 153 Waddling gait
HP:0002359 153 Frequent falls
HP:0003547 153 Shoulder girdle muscle weakness
HP:0008981 153 Calf muscle hypertrophy
HP:0003749 153 Pelvic girdle muscle weakness
HP:0003805 153 Rimmed vacuoles
HP:0008180 153 Mildly elevated creatine kinase
HP:0003306 153 Spinal rigidity
HP:0003722 153 Neck flexor weakness
HP:0003810 153 Late-onset distal muscle weakness
HP:0003551 153 Difficulty climbing stairs
HP:0003555 153 Muscle fiber splitting
HP:0003741 153 Congenital muscular dystrophy

Cluster *154

HPO Cluster Description
HP:0001638 154 Cardiomyopathy
HP:0001271 154 Polyneuropathy
HP:0001265 154 Hyporeflexia
HP:0002922 154 Increased CSF protein
HP:0003678 154 Rapidly progressive
HP:0003690 154 Limb muscle weakness
HP:0001284 154 Areflexia
HP:0003376 154 Steppage gait
HP:0003383 154 Onion bulb formation
HP:0011096 154 Peripheral demyelination
HP:0000762 154 Decreased nerve conduction velocity
HP:0007141 154 Sensorimotor neuropathy
HP:0003434 154 Sensory ataxic neuropathy

Cluster *155

HPO Cluster Description
HP:0000007 155 Autosomal recessive inheritance
HP:0001762 155 Talipes equinovarus
HP:0001302 155 Pachygyria
HP:0001270 155 Motor delay
HP:0000508 155 Ptosis
HP:0000518 155 Cataract
HP:0002804 155 Arthrogryposis multiplex congenita
HP:0001561 155 Polyhydramnios
HP:0003577 155 Congenital onset
HP:0001319 155 Neonatal hypotonia
HP:0001371 155 Flexion contracture
HP:0011968 155 Feeding difficulties
HP:0001558 155 Decreased fetal movement
HP:0002747 155 Respiratory insufficiency due to muscle weakness
HP:0003687 155 Centrally nucleated skeletal muscle fibers
HP:0002093 155 Respiratory insufficiency
HP:0002058 155 Myopathic facies
HP:0002033 155 Poor suck
HP:0002365 155 Hypoplasia of the brainstem
HP:0012110 155 Hypoplasia of the pons
HP:0006829 155 Severe muscular hypotonia
HP:0003741 155 Congenital muscular dystrophy
HP:0007033 155 Cerebellar dysplasia
HP:0007260 155 Type II lissencephaly
HP:0002350 155 Cerebellar cyst
HP:0002872 155 Apneic episodes precipitated by illness, fatigue, stress
HP:0002882 155 Sudden episodic apnea
HP:0003397 155 Generalized hypotonia due to defect at the neuromuscular junction
HP:0003402 155 Decreased miniature endplate potentials

Cluster *156

HPO Cluster Description
HP:0001260 156 Dysarthria
HP:0002385 156 Paraparesis
HP:0003678 156 Rapidly progressive
HP:0007340 156 Lower limb muscle weakness
HP:0002500 156 Abnormality of the cerebral white matter

Cluster *157

HPO Cluster Description
HP:0003593 157 Infantile onset
HP:0001349 157 Facial diplegia
HP:0008972 157 Decreased activity of mitochondrial respiratory chain
HP:0002134 157 Abnormality of the basal ganglia
HP:0008945 157 Loss of ability to walk in early childhood

Cluster *158

HPO Cluster Description
HP:0001270 158 Motor delay
HP:0000508 158 Ptosis
HP:0003828 158 Variable expressivity
HP:0003202 158 Skeletal muscle atrophy
HP:0003674 158 Onset
HP:0003676 158 Progressive
HP:0001271 158 Polyneuropathy
HP:0001283 158 Bulbar palsy
HP:0003581 158 Adult onset
HP:0001260 158 Dysarthria
HP:0001265 158 Hyporeflexia
HP:0001324 158 Muscle weakness
HP:0003477 158 Peripheral axonal neuropathy
HP:0002380 158 Fasciculations
HP:0007354 158 Amyotrophic lateral sclerosis
HP:0002366 158 Abnormal lower motor neuron morphology
HP:0000741 158 Apathy
HP:0002145 158 Frontotemporal dementia
HP:0003678 158 Rapidly progressive
HP:0007240 158 Progressive gait ataxia
HP:0001288 158 Gait disturbance
HP:0001761 158 Pes cavus
HP:0002015 158 Dysphagia
HP:0003677 158 Slow progression
HP:0003693 158 Distal amyotrophy
HP:0003701 158 Proximal muscle weakness
HP:0010628 158 Facial palsy
HP:0001284 158 Areflexia
HP:0002460 158 Distal muscle weakness
HP:0002936 158 Distal sensory impairment
HP:0003621 158 Juvenile onset
HP:0003200 158 Ragged-red muscle fibers
HP:0001618 158 Dysphonia
HP:0000762 158 Decreased nerve conduction velocity
HP:0003390 158 Sensory axonal neuropathy
HP:0007340 158 Lower limb muscle weakness
HP:0002359 158 Frequent falls
HP:0000590 158 Progressive external ophthalmoplegia
HP:0003323 158 Progressive muscle weakness
HP:0003548 158 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 158 Cytochrome C oxidase-negative muscle fibers
HP:0003713 158 Muscle fiber necrosis
HP:0006886 158 Impaired distal vibration sensation
HP:0002355 158 Difficulty walking
HP:0002747 158 Respiratory insufficiency due to muscle weakness
HP:0003554 158 Type 2 muscle fiber atrophy
HP:0002058 158 Myopathic facies
HP:0003448 158 Decreased sensory nerve conduction velocity
HP:0008756 158 Bowing of the vocal cords
HP:0000763 158 Sensory neuropathy
HP:0002483 158 Bulbar signs
HP:0007141 158 Sensorimotor neuropathy
HP:0000597 158 Ophthalmoparesis
HP:0002403 158 Positive Romberg sign
HP:0003436 158 Prolonged miniature endplate currents
HP:0003443 158 Decreased size of nerve terminals

Cluster *159

HPO Cluster Description
HP:0005010 159 Osteomyelitis leading to amputation due to slow healing fractures
HP:0001414 159 Microvesicular hepatic steatosis
HP:0002661 159 Painless fractures due to injury
HP:0007021 159 Pain insensitivity
HP:0006121 159 Acral ulceration

Cluster *160

HPO Cluster Description
HP:0001265 160 Hyporeflexia
HP:0007240 160 Progressive gait ataxia
HP:0001761 160 Pes cavus
HP:0003693 160 Distal amyotrophy
HP:0001284 160 Areflexia
HP:0002460 160 Distal muscle weakness
HP:0003431 160 Decreased motor nerve conduction velocity
HP:0003236 160 Elevated serum creatine kinase
HP:0003548 160 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 160 Cytochrome C oxidase-negative muscle fibers
HP:0003713 160 Muscle fiber necrosis
HP:0006886 160 Impaired distal vibration sensation
HP:0003387 160 Decreased number of large peripheral myelinated nerve fibers
HP:0003448 160 Decreased sensory nerve conduction velocity
HP:0007267 160 Chronic axonal neuropathy
HP:0002403 160 Positive Romberg sign
HP:0003434 160 Sensory ataxic neuropathy
HP:0006937 160 Impaired distal tactile sensation

Cluster *161

HPO Cluster Description
HP:0000544 161 External ophthalmoplegia
HP:0010628 161 Facial palsy
HP:0003691 161 Scapular winging
HP:0002111 161 Restrictive deficit on pulmonary function testing
HP:0003547 161 Shoulder girdle muscle weakness
HP:0003724 161 Shoulder girdle muscle atrophy
HP:0008970 161 Scapulohumeral muscular dystrophy
HP:0008981 161 Calf muscle hypertrophy
HP:0030664 161 Beevor’s sign
HP:0008988 161 Pelvic girdle muscle atrophy
HP:0003749 161 Pelvic girdle muscle weakness

Cluster *162

HPO Cluster Description
HP:0001265 162 Hyporeflexia
HP:0001761 162 Pes cavus
HP:0001284 162 Areflexia
HP:0002460 162 Distal muscle weakness
HP:0003380 162 Decreased number of peripheral myelinated nerve fibers
HP:0003378 162 Axonal degeneration/regeneration
HP:0003384 162 Peripheral axonal atrophy
HP:0001868 162 Autoamputation of foot
HP:0001886 162 Foot osteomyelitis
HP:0003387 162 Decreased number of large peripheral myelinated nerve fibers
HP:0003448 162 Decreased sensory nerve conduction velocity
HP:0007267 162 Chronic axonal neuropathy
HP:0000763 162 Sensory neuropathy

Cluster *163

HPO Cluster Description
HP:0002015 163 Dysphagia
HP:0010628 163 Facial palsy
HP:0002375 163 Hypokinesia
HP:0001558 163 Decreased fetal movement
HP:0000467 163 Neck muscle weakness
HP:0003700 163 Generalized amyotrophy
HP:0002490 163 Increased CSF lactate
HP:0006829 163 Severe muscular hypotonia

Cluster *164

HPO Cluster Description
HP:0001762 164 Talipes equinovarus
HP:0009830 164 Peripheral neuropathy
HP:0003828 164 Variable expressivity
HP:0001265 164 Hyporeflexia
HP:0003477 164 Peripheral axonal neuropathy
HP:0001761 164 Pes cavus
HP:0003693 164 Distal amyotrophy
HP:0003701 164 Proximal muscle weakness
HP:0003307 164 Hyperlordosis
HP:0010628 164 Facial palsy
HP:0001284 164 Areflexia
HP:0002460 164 Distal muscle weakness
HP:0002936 164 Distal sensory impairment
HP:0003376 164 Steppage gait
HP:0003383 164 Onion bulb formation
HP:0003431 164 Decreased motor nerve conduction velocity
HP:0009027 164 Foot dorsiflexor weakness
HP:0002515 164 Waddling gait
HP:0001604 164 Vocal cord paresis
HP:0002355 164 Difficulty walking
HP:0003547 164 Shoulder girdle muscle weakness
HP:0008981 164 Calf muscle hypertrophy
HP:0003749 164 Pelvic girdle muscle weakness
HP:0003805 164 Rimmed vacuoles
HP:0002058 164 Myopathic facies
HP:0000764 164 Peripheral axonal degeneration
HP:0003387 164 Decreased number of large peripheral myelinated nerve fibers
HP:0003551 164 Difficulty climbing stairs
HP:0003400 164 Basal lamina onion bulb formation

Cluster *165

HPO Cluster Description
HP:0000007 165 Autosomal recessive inheritance
HP:0001762 165 Talipes equinovarus
HP:0001270 165 Motor delay
HP:0000508 165 Ptosis
HP:0000218 165 High palate
HP:0002650 165 Scoliosis
HP:0001171 165 Split hand
HP:0001265 165 Hyporeflexia
HP:0040078 165 Axonal degeneration
HP:0002804 165 Arthrogryposis multiplex congenita
HP:0001761 165 Pes cavus
HP:0001561 165 Polyhydramnios
HP:0003307 165 Hyperlordosis
HP:0010628 165 Facial palsy
HP:0001319 165 Neonatal hypotonia
HP:0001371 165 Flexion contracture
HP:0001284 165 Areflexia
HP:0002460 165 Distal muscle weakness
HP:0002936 165 Distal sensory impairment
HP:0003380 165 Decreased number of peripheral myelinated nerve fibers
HP:0002515 165 Waddling gait
HP:0002878 165 Respiratory failure
HP:0011968 165 Feeding difficulties
HP:0003691 165 Scapular winging
HP:0003391 165 Gowers sign

Cluster *167

HPO Cluster Description
HP:0001265 167 Hyporeflexia
HP:0001761 167 Pes cavus
HP:0002936 167 Distal sensory impairment
HP:0003200 167 Ragged-red muscle fibers
HP:0003557 167 Increased variability in muscle fiber diameter
HP:0003390 167 Sensory axonal neuropathy
HP:0003445 167 EMG: neuropathic changes
HP:0003805 167 Rimmed vacuoles
HP:0003555 167 Muscle fiber splitting
HP:0009129 167 Upper limb amyotrophy

Cluster *168

HPO Cluster Description
HP:0001762 168 Talipes equinovarus
HP:0000508 168 Ptosis
HP:0001188 168 Hand clenching
HP:0001371 168 Flexion contracture
HP:0003306 168 Spinal rigidity
HP:0001302 168 Pachygyria
HP:0000518 168 Cataract
HP:0002365 168 Hypoplasia of the brainstem
HP:0007260 168 Type II lissencephaly

Cluster *169

HPO Cluster Description
HP:0001252 169 Muscular hypotonia
HP:0001270 169 Motor delay
HP:0000218 169 High palate
HP:0002650 169 Scoliosis
HP:0000602 169 Ophthalmoplegia
HP:0000544 169 External ophthalmoplegia
HP:0003701 169 Proximal muscle weakness
HP:0003307 169 Hyperlordosis
HP:0010628 169 Facial palsy
HP:0001319 169 Neonatal hypotonia
HP:0003324 169 Generalized muscle weakness
HP:0003798 169 Nemaline bodies
HP:0003557 169 Increased variability in muscle fiber diameter
HP:0002515 169 Waddling gait
HP:0003691 169 Scapular winging
HP:0009046 169 Difficulty running
HP:0003391 169 Gowers sign
HP:0002093 169 Respiratory insufficiency
HP:0003306 169 Spinal rigidity
HP:0009025 169 Increased connective tissue
HP:0003327 169 Axial muscle weakness
HP:0003787 169 Type 1 and type 2 muscle fiber minicore regions

Cluster *170

HPO Cluster Description
HP:0001283 170 Bulbar palsy
HP:0001265 170 Hyporeflexia
HP:0003701 170 Proximal muscle weakness
HP:0010628 170 Facial palsy
HP:0001284 170 Areflexia
HP:0002936 170 Distal sensory impairment
HP:0009027 170 Foot dorsiflexor weakness
HP:0009113 170 Diaphragmatic weakness
HP:0011349 170 Abducens palsy
HP:0008955 170 Progressive distal muscular atrophy
HP:0009063 170 Progressive distal muscle weakness

Cluster *171

HPO Cluster Description
HP:0003674 171 Onset
HP:0001265 171 Hyporeflexia
HP:0001761 171 Pes cavus
HP:0001178 171 Ulnar claw
HP:0001284 171 Areflexia
HP:0001765 171 Hammertoe
HP:0002460 171 Distal muscle weakness
HP:0009027 171 Foot dorsiflexor weakness
HP:0001604 171 Vocal cord paresis
HP:0008180 171 Mildly elevated creatine kinase
HP:0000763 171 Sensory neuropathy
HP:0003444 171 EMG: chronic denervation signs
HP:0006937 171 Impaired distal tactile sensation
HP:0011349 171 Abducens palsy
HP:0012246 171 Oculomotor nerve palsy
HP:0007230 171 Decreased distal sensory nerve action potential

Cluster *172

HPO Cluster Description
HP:0002398 172 Degeneration of anterior horn cells
HP:0040078 172 Axonal degeneration
HP:0000764 172 Peripheral axonal degeneration
HP:0005348 172 Inspiratory stridor
HP:0006597 172 Diaphragmatic paralysis

Cluster *173

HPO Cluster Description
HP:0001252 173 Muscular hypotonia
HP:0008872 173 Feeding difficulties in infancy
HP:0008000 173 Decreased corneal reflex
HP:0000224 173 Decreased taste sensation
HP:0001069 173 Episodic hyperhidrosis
HP:0000975 173 Hyperhidrosis

Cluster *174

HPO Cluster Description
HP:0001302 174 Pachygyria
HP:0001270 174 Motor delay
HP:0000508 174 Ptosis
HP:0000557 174 Buphthalmos
HP:0003828 174 Variable expressivity
HP:0002650 174 Scoliosis
HP:0001638 174 Cardiomyopathy
HP:0003202 174 Skeletal muscle atrophy
HP:0000518 174 Cataract
HP:0003676 174 Progressive
HP:0003581 174 Adult onset
HP:0001260 174 Dysarthria
HP:0001265 174 Hyporeflexia
HP:0001324 174 Muscle weakness
HP:0003394 174 Muscle spasm
HP:0000158 174 Macroglossia
HP:0011675 174 Arrhythmia
HP:0002486 174 Myotonia
HP:0001761 174 Pes cavus
HP:0002015 174 Dysphagia
HP:0003677 174 Slow progression
HP:0000544 174 External ophthalmoplegia
HP:0003693 174 Distal amyotrophy
HP:0003198 174 Myopathy
HP:0003325 174 Limb-girdle muscle weakness
HP:0003690 174 Limb muscle weakness
HP:0003701 174 Proximal muscle weakness
HP:0001611 174 Nasal speech
HP:0003307 174 Hyperlordosis
HP:0010628 174 Facial palsy
HP:0001644 174 Dilated cardiomyopathy
HP:0001319 174 Neonatal hypotonia
HP:0001371 174 Flexion contracture
HP:0003324 174 Generalized muscle weakness
HP:0001284 174 Areflexia
HP:0002460 174 Distal muscle weakness
HP:0002936 174 Distal sensory impairment
HP:0009027 174 Foot dorsiflexor weakness
HP:0003326 174 Myalgia
HP:0003236 174 Elevated serum creatine kinase
HP:0003458 174 EMG: myopathic abnormalities
HP:0003560 174 Muscular dystrophy
HP:0003710 174 Exercise-induced muscle cramps
HP:0003737 174 Mitochondrial myopathy
HP:0012378 174 Fatigue
HP:0003200 174 Ragged-red muscle fibers
HP:0003201 174 Rhabdomyolysis
HP:0003546 174 Exercise intolerance
HP:0003557 174 Increased variability in muscle fiber diameter
HP:0003712 174 Skeletal muscle hypertrophy
HP:0001321 174 Cerebellar hypoplasia
HP:0002515 174 Waddling gait
HP:0003388 174 Easy fatigability
HP:0003390 174 Sensory axonal neuropathy
HP:0003552 174 Muscle stiffness
HP:0002913 174 Myoglobinuria
HP:0003691 174 Scapular winging
HP:0002359 174 Frequent falls
HP:0000590 174 Progressive external ophthalmoplegia
HP:0003323 174 Progressive muscle weakness
HP:0002355 174 Difficulty walking
HP:0002522 174 Areflexia of lower limbs
HP:0002600 174 Hyporeflexia of lower limbs
HP:0008956 174 Proximal lower limb amyotrophy
HP:0008994 174 Proximal muscle weakness in lower limbs
HP:0009046 174 Difficulty running
HP:0001558 174 Decreased fetal movement
HP:0002747 174 Respiratory insufficiency due to muscle weakness
HP:0006466 174 Ankle flexion contracture
HP:0002111 174 Restrictive deficit on pulmonary function testing
HP:0003547 174 Shoulder girdle muscle weakness
HP:0003724 174 Shoulder girdle muscle atrophy
HP:0008981 174 Calf muscle hypertrophy
HP:0003749 174 Pelvic girdle muscle weakness
HP:0003391 174 Gowers sign
HP:0003687 174 Centrally nucleated skeletal muscle fibers
HP:0000467 174 Neck muscle weakness
HP:0003805 174 Rimmed vacuoles
HP:0002093 174 Respiratory insufficiency
HP:0003738 174 Exercise-induced myalgia
HP:0007126 174 Proximal amyotrophy
HP:0002058 174 Myopathic facies
HP:0003306 174 Spinal rigidity
HP:0003722 174 Neck flexor weakness
HP:0003736 174 Autophagic vacuoles
HP:0008756 174 Bowing of the vocal cords
HP:0003551 174 Difficulty climbing stairs
HP:0008988 174 Pelvic girdle muscle atrophy
HP:0001771 174 Achilles tendon contracture
HP:0006785 174 Limb-girdle muscular dystrophy
HP:0003704 174 Scapuloperoneal weakness
HP:0003555 174 Muscle fiber splitting
HP:0003697 174 Scapuloperoneal amyotrophy
HP:0009063 174 Progressive distal muscle weakness
HP:0002365 174 Hypoplasia of the brainstem
HP:0002803 174 Congenital contracture
HP:0003700 174 Generalized amyotrophy
HP:0007973 174 Retinal dysplasia
HP:0012110 174 Hypoplasia of the pons
HP:0009025 174 Increased connective tissue
HP:0006829 174 Severe muscular hypotonia
HP:0003741 174 Congenital muscular dystrophy
HP:0007033 174 Cerebellar dysplasia
HP:0007260 174 Type II lissencephaly
HP:0031882 174 Agyria
HP:0008967 174 Exercise-induced muscle stiffness
HP:0040083 174 Toe walking
HP:0002350 174 Cerebellar cyst
HP:0100614 174 Myositis
HP:0003707 174 Calf muscle pseudohypertrophy
HP:0003731 174 Quadriceps muscle weakness
HP:0003791 174 Deposits immunoreactive to beta-amyloid protein
HP:0009072 174 Decreased Achilles reflex
HP:0003715 174 Myofibrillar myopathy
HP:0009055 174 Generalized limb muscle atrophy
HP:0008948 174 Proximal upper limb amyotrophy
HP:0002792 174 Reduced vital capacity
HP:0003719 174 Muscle mounding
HP:0003733 174 Thigh hypertrophy
HP:0100297 174 Increased endomysial connective tissue
HP:0100303 174 Muscle fiber cytoplasmatic inclusion bodies
HP:0030046 174 Hypoglycosylation of alpha-dystroglycan

Cluster *175

HPO Cluster Description
HP:0000508 175 Ptosis
HP:0000218 175 High palate
HP:0002650 175 Scoliosis
HP:0003674 175 Onset
HP:0003676 175 Progressive
HP:0001283 175 Bulbar palsy
HP:0001265 175 Hyporeflexia
HP:0001324 175 Muscle weakness
HP:0002804 175 Arthrogryposis multiplex congenita
HP:0000602 175 Ophthalmoplegia
HP:0001761 175 Pes cavus
HP:0002015 175 Dysphagia
HP:0002093 175 Respiratory insufficiency
HP:0003677 175 Slow progression
HP:0003693 175 Distal amyotrophy
HP:0003198 175 Myopathy
HP:0003701 175 Proximal muscle weakness
HP:0001611 175 Nasal speech
HP:0010628 175 Facial palsy
HP:0001319 175 Neonatal hypotonia
HP:0003324 175 Generalized muscle weakness
HP:0003798 175 Nemaline bodies
HP:0001284 175 Areflexia
HP:0002460 175 Distal muscle weakness
HP:0011463 175 Childhood onset
HP:0001612 175 Weak cry
HP:0003458 175 EMG: myopathic abnormalities
HP:0003737 175 Mitochondrial myopathy
HP:0003200 175 Ragged-red muscle fibers
HP:0003546 175 Exercise intolerance
HP:0003557 175 Increased variability in muscle fiber diameter
HP:0001618 175 Dysphonia
HP:0003388 175 Easy fatigability
HP:0011968 175 Feeding difficulties
HP:0000590 175 Progressive external ophthalmoplegia
HP:0003323 175 Progressive muscle weakness
HP:0003548 175 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 175 Cytochrome C oxidase-negative muscle fibers
HP:0006886 175 Impaired distal vibration sensation
HP:0001558 175 Decreased fetal movement
HP:0002747 175 Respiratory insufficiency due to muscle weakness
HP:0003547 175 Shoulder girdle muscle weakness
HP:0000467 175 Neck muscle weakness
HP:0003554 175 Type 2 muscle fiber atrophy
HP:0002058 175 Myopathic facies
HP:0003306 175 Spinal rigidity
HP:0003722 175 Neck flexor weakness
HP:0003810 175 Late-onset distal muscle weakness
HP:0002033 175 Poor suck
HP:0006829 175 Severe muscular hypotonia
HP:0000597 175 Ophthalmoparesis
HP:0002872 175 Apneic episodes precipitated by illness, fatigue, stress
HP:0002882 175 Sudden episodic apnea
HP:0003397 175 Generalized hypotonia due to defect at the neuromuscular junction
HP:0003402 175 Decreased miniature endplate potentials
HP:0003403 175 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 175 Fatigable weakness
HP:0002403 175 Positive Romberg sign
HP:0003436 175 Prolonged miniature endplate currents
HP:0003443 175 Decreased size of nerve terminals

Cluster *176

HPO Cluster Description
HP:0001270 176 Motor delay
HP:0001265 176 Hyporeflexia
HP:0001761 176 Pes cavus
HP:0003693 176 Distal amyotrophy
HP:0003701 176 Proximal muscle weakness
HP:0010628 176 Facial palsy
HP:0001319 176 Neonatal hypotonia
HP:0001371 176 Flexion contracture
HP:0003803 176 Type 1 muscle fiber predominance
HP:0001284 176 Areflexia
HP:0002460 176 Distal muscle weakness
HP:0002936 176 Distal sensory impairment
HP:0003376 176 Steppage gait
HP:0003380 176 Decreased number of peripheral myelinated nerve fibers
HP:0003431 176 Decreased motor nerve conduction velocity
HP:0009027 176 Foot dorsiflexor weakness
HP:0003458 176 EMG: myopathic abnormalities
HP:0003200 176 Ragged-red muscle fibers
HP:0003390 176 Sensory axonal neuropathy
HP:0000590 176 Progressive external ophthalmoplegia
HP:0003548 176 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 176 Cytochrome C oxidase-negative muscle fibers
HP:0003713 176 Muscle fiber necrosis
HP:0006886 176 Impaired distal vibration sensation
HP:0008981 176 Calf muscle hypertrophy
HP:0002058 176 Myopathic facies
HP:0003306 176 Spinal rigidity
HP:0003810 176 Late-onset distal muscle weakness
HP:0003551 176 Difficulty climbing stairs
HP:0002403 176 Positive Romberg sign
HP:0003434 176 Sensory ataxic neuropathy
HP:0003733 176 Thigh hypertrophy

Cluster *177

HPO Cluster Description
HP:0000508 177 Ptosis
HP:0003236 177 Elevated serum creatine kinase
HP:0003200 177 Ragged-red muscle fibers
HP:0002747 177 Respiratory insufficiency due to muscle weakness
HP:0003700 177 Generalized amyotrophy
HP:0008972 177 Decreased activity of mitochondrial respiratory chain
HP:0008945 177 Loss of ability to walk in early childhood
HP:0002134 177 Abnormality of the basal ganglia

Cluster *178

HPO Cluster Description
HP:0007240 178 Progressive gait ataxia
HP:0003438 178 Absent Achilles reflex
HP:0003693 178 Distal amyotrophy
HP:0001765 178 Hammertoe
HP:0002460 178 Distal muscle weakness
HP:0002936 178 Distal sensory impairment
HP:0003376 178 Steppage gait
HP:0003448 178 Decreased sensory nerve conduction velocity

Cluster *179

HPO Cluster Description
HP:0000007 179 Autosomal recessive inheritance
HP:0001762 179 Talipes equinovarus
HP:0001252 179 Muscular hypotonia
HP:0001302 179 Pachygyria
HP:0001270 179 Motor delay
HP:0000508 179 Ptosis
HP:0000218 179 High palate
HP:0002650 179 Scoliosis
HP:0001638 179 Cardiomyopathy
HP:0002751 179 Kyphoscoliosis
HP:0003593 179 Infantile onset
HP:0000518 179 Cataract
HP:0001425 179 Heterogeneous
HP:0001271 179 Polyneuropathy
HP:0001265 179 Hyporeflexia
HP:0001324 179 Muscle weakness
HP:0002922 179 Increased CSF protein
HP:0008872 179 Feeding difficulties in infancy
HP:0002015 179 Dysphagia
HP:0001561 179 Polyhydramnios
HP:0003198 179 Myopathy
HP:0001639 179 Hypertrophic cardiomyopathy
HP:0001371 179 Flexion contracture
HP:0011096 179 Peripheral demyelination
HP:0001349 179 Facial diplegia
HP:0001427 179 Mitochondrial inheritance
HP:0003128 179 Lactic acidosis
HP:0001321 179 Cerebellar hypoplasia
HP:0002747 179 Respiratory insufficiency due to muscle weakness
HP:0002093 179 Respiratory insufficiency
HP:0002365 179 Hypoplasia of the brainstem
HP:0002490 179 Increased CSF lactate
HP:0003741 179 Congenital muscular dystrophy
HP:0008972 179 Decreased activity of mitochondrial respiratory chain
HP:0008945 179 Loss of ability to walk in early childhood

Cluster *180

HPO Cluster Description
HP:0000007 180 Autosomal recessive inheritance
HP:0000218 180 High palate
HP:0001283 180 Bulbar palsy
HP:0001265 180 Hyporeflexia
HP:0002804 180 Arthrogryposis multiplex congenita
HP:0000602 180 Ophthalmoplegia
HP:0001761 180 Pes cavus
HP:0003307 180 Hyperlordosis
HP:0001319 180 Neonatal hypotonia
HP:0001371 180 Flexion contracture
HP:0003324 180 Generalized muscle weakness
HP:0003798 180 Nemaline bodies
HP:0003803 180 Type 1 muscle fiber predominance
HP:0001284 180 Areflexia
HP:0002460 180 Distal muscle weakness
HP:0009027 180 Foot dorsiflexor weakness
HP:0003458 180 EMG: myopathic abnormalities
HP:0002515 180 Waddling gait
HP:0001558 180 Decreased fetal movement
HP:0002747 180 Respiratory insufficiency due to muscle weakness
HP:0003391 180 Gowers sign
HP:0002093 180 Respiratory insufficiency
HP:0002058 180 Myopathic facies
HP:0003306 180 Spinal rigidity
HP:0003810 180 Late-onset distal muscle weakness
HP:0003700 180 Generalized amyotrophy
HP:0001765 180 Hammertoe
HP:0003378 180 Axonal degeneration/regeneration
HP:0001533 180 Slender build
HP:0000467 180 Neck muscle weakness
HP:0007973 180 Retinal dysplasia
HP:0006829 180 Severe muscular hypotonia
HP:0003741 180 Congenital muscular dystrophy
HP:0007260 180 Type II lissencephaly
HP:0031882 180 Agyria
HP:0003327 180 Axial muscle weakness

Cluster *181

HPO Cluster Description
HP:0000007 181 Autosomal recessive inheritance
HP:0001270 181 Motor delay
HP:0000508 181 Ptosis
HP:0001265 181 Hyporeflexia
HP:0001324 181 Muscle weakness
HP:0003477 181 Peripheral axonal neuropathy
HP:0002380 181 Fasciculations
HP:0002398 181 Degeneration of anterior horn cells
HP:0003394 181 Muscle spasm
HP:0007354 181 Amyotrophic lateral sclerosis
HP:0002366 181 Abnormal lower motor neuron morphology
HP:0040078 181 Axonal degeneration
HP:0001761 181 Pes cavus
HP:0003198 181 Myopathy
HP:0001639 181 Hypertrophic cardiomyopathy
HP:0001371 181 Flexion contracture
HP:0001284 181 Areflexia
HP:0002936 181 Distal sensory impairment
HP:0003326 181 Myalgia
HP:0003737 181 Mitochondrial myopathy
HP:0012378 181 Fatigue
HP:0003200 181 Ragged-red muscle fibers
HP:0003201 181 Rhabdomyolysis
HP:0003546 181 Exercise intolerance
HP:0003557 181 Increased variability in muscle fiber diameter
HP:0003712 181 Skeletal muscle hypertrophy
HP:0002878 181 Respiratory failure
HP:0003552 181 Muscle stiffness
HP:0011968 181 Feeding difficulties
HP:0002913 181 Myoglobinuria
HP:0002355 181 Difficulty walking
HP:0007269 181 Spinal muscular atrophy
HP:0008981 181 Calf muscle hypertrophy
HP:0001308 181 Tongue fasciculations
HP:0002093 181 Respiratory insufficiency
HP:0003738 181 Exercise-induced myalgia
HP:0010548 181 Percussion myotonia
HP:0005348 181 Inspiratory stridor
HP:0030046 181 Hypoglycosylation of alpha-dystroglycan

Cluster *182

HPO Cluster Description
HP:0001283 182 Bulbar palsy
HP:0003581 182 Adult onset
HP:0001265 182 Hyporeflexia
HP:0003394 182 Muscle spasm
HP:0007354 182 Amyotrophic lateral sclerosis
HP:0002145 182 Frontotemporal dementia
HP:0002015 182 Dysphagia
HP:0003693 182 Distal amyotrophy
HP:0002460 182 Distal muscle weakness
HP:0002747 182 Respiratory insufficiency due to muscle weakness
HP:0003547 182 Shoulder girdle muscle weakness
HP:0003805 182 Rimmed vacuoles

Cluster *183

HPO Cluster Description
HP:0001270 183 Motor delay
HP:0001425 183 Heterogeneous
HP:0001265 183 Hyporeflexia
HP:0001761 183 Pes cavus
HP:0003693 183 Distal amyotrophy
HP:0001611 183 Nasal speech
HP:0010628 183 Facial palsy
HP:0001319 183 Neonatal hypotonia
HP:0001371 183 Flexion contracture
HP:0003803 183 Type 1 muscle fiber predominance
HP:0001284 183 Areflexia
HP:0002460 183 Distal muscle weakness
HP:0003376 183 Steppage gait
HP:0003621 183 Juvenile onset
HP:0009027 183 Foot dorsiflexor weakness
HP:0001612 183 Weak cry
HP:0003200 183 Ragged-red muscle fibers
HP:0003390 183 Sensory axonal neuropathy
HP:0000590 183 Progressive external ophthalmoplegia
HP:0003548 183 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 183 Cytochrome C oxidase-negative muscle fibers
HP:0003713 183 Muscle fiber necrosis
HP:0006886 183 Impaired distal vibration sensation
HP:0002058 183 Myopathic facies
HP:0003810 183 Late-onset distal muscle weakness
HP:0020152 183 Distal joint laxity
HP:0000597 183 Ophthalmoparesis
HP:0003403 183 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 183 Fatigable weakness

Cluster *185

HPO Cluster Description
HP:0003380 185 Decreased number of peripheral myelinated nerve fibers
HP:0003378 185 Axonal degeneration/regeneration
HP:0001618 185 Dysphonia
HP:0000590 185 Progressive external ophthalmoplegia
HP:0001604 185 Vocal cord paresis
HP:0007126 185 Proximal amyotrophy
HP:0003306 185 Spinal rigidity
HP:0003700 185 Generalized amyotrophy
HP:0008443 185 Spinal deformities

Cluster *186

HPO Cluster Description
HP:0000007 186 Autosomal recessive inheritance
HP:0001270 186 Motor delay
HP:0000508 186 Ptosis
HP:0003593 186 Infantile onset
HP:0003676 186 Progressive
HP:0001260 186 Dysarthria
HP:0000602 186 Ophthalmoplegia
HP:0002015 186 Dysphagia
HP:0010628 186 Facial palsy
HP:0001319 186 Neonatal hypotonia
HP:0001371 186 Flexion contracture
HP:0003324 186 Generalized muscle weakness
HP:0003803 186 Type 1 muscle fiber predominance
HP:0003431 186 Decreased motor nerve conduction velocity
HP:0001612 186 Weak cry
HP:0003200 186 Ragged-red muscle fibers
HP:0003388 186 Easy fatigability
HP:0011968 186 Feeding difficulties
HP:0002093 186 Respiratory insufficiency
HP:0003554 186 Type 2 muscle fiber atrophy
HP:0003306 186 Spinal rigidity

Cluster *187

HPO Cluster Description
HP:0001270 187 Motor delay
HP:0000508 187 Ptosis
HP:0003828 187 Variable expressivity
HP:0000218 187 High palate
HP:0002650 187 Scoliosis
HP:0002804 187 Arthrogryposis multiplex congenita
HP:0010628 187 Facial palsy
HP:0001319 187 Neonatal hypotonia
HP:0001371 187 Flexion contracture
HP:0001612 187 Weak cry
HP:0011968 187 Feeding difficulties
HP:0002355 187 Difficulty walking
HP:0002093 187 Respiratory insufficiency
HP:0003554 187 Type 2 muscle fiber atrophy
HP:0002058 187 Myopathic facies
HP:0003306 187 Spinal rigidity
HP:0012110 187 Hypoplasia of the pons
HP:0003443 187 Decreased size of nerve terminals

Cluster *188

HPO Cluster Description
HP:0000007 188 Autosomal recessive inheritance
HP:0003678 188 Rapidly progressive
HP:0001188 188 Hand clenching
HP:0002804 188 Arthrogryposis multiplex congenita
HP:0001561 188 Polyhydramnios
HP:0000544 188 External ophthalmoplegia
HP:0003577 188 Congenital onset
HP:0001319 188 Neonatal hypotonia
HP:0001371 188 Flexion contracture
HP:0001612 188 Weak cry
HP:0002878 188 Respiratory failure
HP:0011968 188 Feeding difficulties
HP:0001558 188 Decreased fetal movement
HP:0002093 188 Respiratory insufficiency
HP:0009113 188 Diaphragmatic weakness
HP:0006829 188 Severe muscular hypotonia
HP:0003715 188 Myofibrillar myopathy

Cluster *189

HPO Cluster Description
HP:0003557 189 Increased variability in muscle fiber diameter
HP:0008956 189 Proximal lower limb amyotrophy
HP:0008994 189 Proximal muscle weakness in lower limbs
HP:0009046 189 Difficulty running
HP:0003547 189 Shoulder girdle muscle weakness
HP:0008981 189 Calf muscle hypertrophy
HP:0003749 189 Pelvic girdle muscle weakness
HP:0003805 189 Rimmed vacuoles
HP:0003551 189 Difficulty climbing stairs
HP:0006785 189 Limb-girdle muscular dystrophy
HP:0009025 189 Increased connective tissue
HP:0008948 189 Proximal upper limb amyotrophy
HP:0011808 189 Decreased patellar reflex

Cluster *190

HPO Cluster Description
HP:0003394 190 Muscle spasm
HP:0003677 190 Slow progression
HP:0000544 190 External ophthalmoplegia
HP:0003701 190 Proximal muscle weakness
HP:0003557 190 Increased variability in muscle fiber diameter
HP:0002522 190 Areflexia of lower limbs
HP:0002600 190 Hyporeflexia of lower limbs
HP:0007269 190 Spinal muscular atrophy
HP:0009046 190 Difficulty running
HP:0003554 190 Type 2 muscle fiber atrophy
HP:0003738 190 Exercise-induced myalgia
HP:0007126 190 Proximal amyotrophy
HP:0009005 190 Weakness of the intrinsic hand muscles
HP:0003444 190 EMG: chronic denervation signs

Cluster *191

HPO Cluster Description
HP:0002021 191 Pyloric stenosis
HP:0002650 191 Scoliosis
HP:0000518 191 Cataract
HP:0001561 191 Polyhydramnios
HP:0001611 191 Nasal speech
HP:0001319 191 Neonatal hypotonia
HP:0000467 191 Neck muscle weakness
HP:0002033 191 Poor suck

Cluster *192

HPO Cluster Description
HP:0003693 192 Distal amyotrophy
HP:0003325 192 Limb-girdle muscle weakness
HP:0002460 192 Distal muscle weakness
HP:0003376 192 Steppage gait
HP:0009027 192 Foot dorsiflexor weakness
HP:0003805 192 Rimmed vacuoles
HP:0003551 192 Difficulty climbing stairs
HP:0003737 192 Mitochondrial myopathy

Cluster *194

HPO Cluster Description
HP:0001271 194 Polyneuropathy
HP:0001324 194 Muscle weakness
HP:0011675 194 Arrhythmia
HP:0001288 194 Gait disturbance
HP:0003693 194 Distal amyotrophy
HP:0002460 194 Distal muscle weakness
HP:0006958 194 Abnormal auditory evoked potentials
HP:0000762 194 Decreased nerve conduction velocity

Cluster *195

HPO Cluster Description
HP:0002922 195 Increased CSF protein
HP:0003470 195 Paralysis
HP:0001414 195 Microvesicular hepatic steatosis
HP:0003219 195 Ethylmalonic aciduria
HP:0012847 195 Epilepsia partialis continua
HP:0006957 195 Loss of ability to walk

Cluster *196

HPO Cluster Description
HP:0003828 196 Variable expressivity
HP:0003701 196 Proximal muscle weakness
HP:0010628 196 Facial palsy
HP:0003803 196 Type 1 muscle fiber predominance
HP:0003557 196 Increased variability in muscle fiber diameter
HP:0002359 196 Frequent falls
HP:0003713 196 Muscle fiber necrosis
HP:0002355 196 Difficulty walking
HP:0002111 196 Restrictive deficit on pulmonary function testing
HP:0003547 196 Shoulder girdle muscle weakness
HP:0008981 196 Calf muscle hypertrophy
HP:0003749 196 Pelvic girdle muscle weakness
HP:0003306 196 Spinal rigidity
HP:0003722 196 Neck flexor weakness
HP:0003700 196 Generalized amyotrophy
HP:0002877 196 Nocturnal hypoventilation
HP:0020152 196 Distal joint laxity
HP:0003741 196 Congenital muscular dystrophy
HP:0003327 196 Axial muscle weakness
HP:0032341 196 Reduced forced vital capacity
HP:0003787 196 Type 1 and type 2 muscle fiber minicore regions
HP:0002792 196 Reduced vital capacity
HP:0003733 196 Thigh hypertrophy

Cluster *197

HPO Cluster Description
HP:0003202 197 Skeletal muscle atrophy
HP:0003676 197 Progressive
HP:0001283 197 Bulbar palsy
HP:0003581 197 Adult onset
HP:0002380 197 Fasciculations
HP:0007354 197 Amyotrophic lateral sclerosis
HP:0002366 197 Abnormal lower motor neuron morphology
HP:0000741 197 Apathy
HP:0002145 197 Frontotemporal dementia
HP:0002015 197 Dysphagia
HP:0002747 197 Respiratory insufficiency due to muscle weakness
HP:0002483 197 Bulbar signs
HP:0003678 197 Rapidly progressive
HP:0002127 197 Abnormal upper motor neuron morphology

Cluster *199

HPO Cluster Description
HP:0002366 199 Abnormal lower motor neuron morphology
HP:0008756 199 Bowing of the vocal cords
HP:0002127 199 Abnormal upper motor neuron morphology
HP:0009130 199 Hand muscle atrophy
HP:0003697 199 Scapuloperoneal amyotrophy
HP:0002483 199 Bulbar signs
HP:0030237 199 Hand muscle weakness

Cluster *202

HPO Cluster Description
HP:0001762 202 Talipes equinovarus
HP:0002650 202 Scoliosis
HP:0003677 202 Slow progression
HP:0003307 202 Hyperlordosis
HP:0003803 202 Type 1 muscle fiber predominance
HP:0001284 202 Areflexia
HP:0003458 202 EMG: myopathic abnormalities
HP:0002515 202 Waddling gait
HP:0003691 202 Scapular winging
HP:0003687 202 Centrally nucleated skeletal muscle fibers
HP:0003704 202 Scapuloperoneal weakness
HP:0003697 202 Scapuloperoneal amyotrophy
HP:0003741 202 Congenital muscular dystrophy
HP:0003707 202 Calf muscle pseudohypertrophy
HP:0009055 202 Generalized limb muscle atrophy
HP:0002792 202 Reduced vital capacity
HP:0030046 202 Hypoglycosylation of alpha-dystroglycan

Cluster *203

HPO Cluster Description
HP:0000508 203 Ptosis
HP:0003701 203 Proximal muscle weakness
HP:0010628 203 Facial palsy
HP:0003326 203 Myalgia
HP:0003458 203 EMG: myopathic abnormalities
HP:0003737 203 Mitochondrial myopathy
HP:0003200 203 Ragged-red muscle fibers
HP:0003201 203 Rhabdomyolysis
HP:0003546 203 Exercise intolerance
HP:0000590 203 Progressive external ophthalmoplegia
HP:0003548 203 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 203 Cytochrome C oxidase-negative muscle fibers
HP:0003434 203 Sensory ataxic neuropathy
HP:0001618 203 Dysphonia
HP:0003388 203 Easy fatigability
HP:0003390 203 Sensory axonal neuropathy
HP:0003323 203 Progressive muscle weakness
HP:0003713 203 Muscle fiber necrosis
HP:0006886 203 Impaired distal vibration sensation
HP:0002093 203 Respiratory insufficiency
HP:0003306 203 Spinal rigidity

Cluster *204

HPO Cluster Description
HP:0009830 204 Peripheral neuropathy
HP:0003581 204 Adult onset
HP:0001288 204 Gait disturbance
HP:0003677 204 Slow progression
HP:0003693 204 Distal amyotrophy
HP:0003701 204 Proximal muscle weakness
HP:0010628 204 Facial palsy
HP:0003376 204 Steppage gait
HP:0003458 204 EMG: myopathic abnormalities
HP:0003390 204 Sensory axonal neuropathy
HP:0002355 204 Difficulty walking
HP:0002600 204 Hyporeflexia of lower limbs
HP:0009053 204 Distal lower limb muscle weakness
HP:0003470 204 Paralysis
HP:0002522 204 Areflexia of lower limbs
HP:0003736 204 Autophagic vacuoles
HP:0003555 204 Muscle fiber splitting
HP:0009063 204 Progressive distal muscle weakness
HP:0003715 204 Myofibrillar myopathy
HP:0100303 204 Muscle fiber cytoplasmatic inclusion bodies
HP:0003805 204 Rimmed vacuoles

Cluster *206

HPO Cluster Description
HP:0003581 206 Adult onset
HP:0003693 206 Distal amyotrophy
HP:0002460 206 Distal muscle weakness
HP:0003805 206 Rimmed vacuoles
HP:0003551 206 Difficulty climbing stairs
HP:0040083 206 Toe walking
HP:0003791 206 Deposits immunoreactive to beta-amyloid protein
HP:0009072 206 Decreased Achilles reflex

Cluster *207

HPO Cluster Description
HP:0009830 207 Peripheral neuropathy
HP:0003828 207 Variable expressivity
HP:0001265 207 Hyporeflexia
HP:0003477 207 Peripheral axonal neuropathy
HP:0001761 207 Pes cavus
HP:0003677 207 Slow progression
HP:0001284 207 Areflexia
HP:0002460 207 Distal muscle weakness
HP:0009027 207 Foot dorsiflexor weakness
HP:0003693 207 Distal amyotrophy
HP:0003690 207 Limb muscle weakness
HP:0003701 207 Proximal muscle weakness
HP:0010628 207 Facial palsy
HP:0001319 207 Neonatal hypotonia
HP:0003798 207 Nemaline bodies
HP:0003803 207 Type 1 muscle fiber predominance
HP:0001765 207 Hammertoe
HP:0002936 207 Distal sensory impairment
HP:0003376 207 Steppage gait
HP:0003380 207 Decreased number of peripheral myelinated nerve fibers
HP:0003382 207 Hypertrophic nerve changes
HP:0003383 207 Onion bulb formation
HP:0003431 207 Decreased motor nerve conduction velocity
HP:0003449 207 Cold-induced muscle cramps
HP:0003621 207 Juvenile onset
HP:0004336 207 Myelin outfoldings
HP:0003378 207 Axonal degeneration/regeneration
HP:0003384 207 Peripheral axonal atrophy
HP:0003458 207 EMG: myopathic abnormalities
HP:0003557 207 Increased variability in muscle fiber diameter
HP:0002515 207 Waddling gait
HP:0003691 207 Scapular winging
HP:0002359 207 Frequent falls
HP:0002355 207 Difficulty walking
HP:0003547 207 Shoulder girdle muscle weakness
HP:0008981 207 Calf muscle hypertrophy
HP:0003749 207 Pelvic girdle muscle weakness
HP:0003391 207 Gowers sign
HP:0003687 207 Centrally nucleated skeletal muscle fibers
HP:0000467 207 Neck muscle weakness
HP:0003805 207 Rimmed vacuoles
HP:0008180 207 Mildly elevated creatine kinase
HP:0003306 207 Spinal rigidity
HP:0003736 207 Autophagic vacuoles
HP:0003551 207 Difficulty climbing stairs
HP:0003555 207 Muscle fiber splitting
HP:0003715 207 Myofibrillar myopathy
HP:0003724 207 Shoulder girdle muscle atrophy

Cluster *208

HPO Cluster Description
HP:0003676 208 Progressive
HP:0001265 208 Hyporeflexia
HP:0001324 208 Muscle weakness
HP:0003477 208 Peripheral axonal neuropathy
HP:0001288 208 Gait disturbance
HP:0002015 208 Dysphagia
HP:0003693 208 Distal amyotrophy
HP:0001284 208 Areflexia
HP:0002460 208 Distal muscle weakness
HP:0002936 208 Distal sensory impairment
HP:0003383 208 Onion bulb formation
HP:0011096 208 Peripheral demyelination
HP:0003557 208 Increased variability in muscle fiber diameter
HP:0003388 208 Easy fatigability
HP:0000762 208 Decreased nerve conduction velocity
HP:0007269 208 Spinal muscular atrophy
HP:0003700 208 Generalized amyotrophy
HP:0003447 208 Axonal loss
HP:0007182 208 Peripheral hypomyelination
HP:0007141 208 Sensorimotor neuropathy
HP:0006829 208 Severe muscular hypotonia

Cluster *209

HPO Cluster Description
HP:0001265 209 Hyporeflexia
HP:0003477 209 Peripheral axonal neuropathy
HP:0001761 209 Pes cavus
HP:0003693 209 Distal amyotrophy
HP:0001178 209 Ulnar claw
HP:0001284 209 Areflexia
HP:0001765 209 Hammertoe
HP:0002460 209 Distal muscle weakness
HP:0002936 209 Distal sensory impairment
HP:0003376 209 Steppage gait
HP:0003383 209 Onion bulb formation
HP:0003431 209 Decreased motor nerve conduction velocity
HP:0006886 209 Impaired distal vibration sensation
HP:0007267 209 Chronic axonal neuropathy
HP:0003444 209 EMG: chronic denervation signs
HP:0006937 209 Impaired distal tactile sensation

Cluster *210

HPO Cluster Description
HP:0001252 210 Muscular hypotonia
HP:0008872 210 Feeding difficulties in infancy
HP:0003577 210 Congenital onset
HP:0002803 210 Congenital contracture
HP:0007941 210 Limited extraocular movements
HP:0200147 210 Neuronal loss in basal ganglia
HP:0006999 210 Basal ganglia gliosis

Cluster *212

HPO Cluster Description
HP:0001638 212 Cardiomyopathy
HP:0003202 212 Skeletal muscle atrophy
HP:0003676 212 Progressive
HP:0001271 212 Polyneuropathy
HP:0002922 212 Increased CSF protein
HP:0001265 212 Hyporeflexia
HP:0001324 212 Muscle weakness
HP:0003477 212 Peripheral axonal neuropathy
HP:0003470 212 Paralysis
HP:0011675 212 Arrhythmia
HP:0003693 212 Distal amyotrophy
HP:0001284 212 Areflexia
HP:0002936 212 Distal sensory impairment
HP:0003383 212 Onion bulb formation
HP:0003431 212 Decreased motor nerve conduction velocity
HP:0001349 212 Facial diplegia
HP:0000762 212 Decreased nerve conduction velocity
HP:0002600 212 Hyporeflexia of lower limbs
HP:0003448 212 Decreased sensory nerve conduction velocity
HP:0001771 212 Achilles tendon contracture
HP:0009063 212 Progressive distal muscle weakness
HP:0002490 212 Increased CSF lactate
HP:0007141 212 Sensorimotor neuropathy
HP:0003715 212 Myofibrillar myopathy

Cluster *213

HPO Cluster Description
HP:0000970 213 Anhidrosis
HP:0007460 213 Autoamputation of digits
HP:0002661 213 Painless fractures due to injury
HP:0008000 213 Decreased corneal reflex
HP:0003448 213 Decreased sensory nerve conduction velocity
HP:0000224 213 Decreased taste sensation
HP:0001069 213 Episodic hyperhidrosis
HP:0006121 213 Acral ulceration
HP:0003115 213 Abnormal EKG

Cluster *214

HPO Cluster Description
HP:0002650 214 Scoliosis
HP:0003677 214 Slow progression
HP:0003693 214 Distal amyotrophy
HP:0010628 214 Facial palsy
HP:0001284 214 Areflexia
HP:0002460 214 Distal muscle weakness
HP:0009027 214 Foot dorsiflexor weakness
HP:0003391 214 Gowers sign
HP:0008955 214 Progressive distal muscular atrophy
HP:0009113 214 Diaphragmatic weakness
HP:0011349 214 Abducens palsy
HP:0009130 214 Hand muscle atrophy
HP:0012246 214 Oculomotor nerve palsy

Cluster *215

HPO Cluster Description
HP:0000544 215 External ophthalmoplegia
HP:0003198 215 Myopathy
HP:0003701 215 Proximal muscle weakness
HP:0010628 215 Facial palsy
HP:0003326 215 Myalgia
HP:0003458 215 EMG: myopathic abnormalities
HP:0003560 215 Muscular dystrophy
HP:0003710 215 Exercise-induced muscle cramps
HP:0003201 215 Rhabdomyolysis
HP:0003546 215 Exercise intolerance
HP:0003557 215 Increased variability in muscle fiber diameter
HP:0002913 215 Myoglobinuria
HP:0009046 215 Difficulty running
HP:0003738 215 Exercise-induced myalgia
HP:0008988 215 Pelvic girdle muscle atrophy
HP:0003707 215 Calf muscle pseudohypertrophy
HP:0003731 215 Quadriceps muscle weakness
HP:0003327 215 Axial muscle weakness
HP:0003787 215 Type 1 and type 2 muscle fiber minicore regions

Cluster *216

HPO Cluster Description
HP:0002522 216 Areflexia of lower limbs
HP:0009053 216 Distal lower limb muscle weakness
HP:0008944 216 Distal lower limb amyotrophy
HP:0008948 216 Proximal upper limb amyotrophy
HP:0008994 216 Proximal muscle weakness in lower limbs
HP:0003791 216 Deposits immunoreactive to beta-amyloid protein
HP:0007149 216 Distal upper limb amyotrophy

Cluster *217

HPO Cluster Description
HP:0003477 217 Peripheral axonal neuropathy
HP:0000970 217 Anhidrosis
HP:0002754 217 Osteomyelitis
HP:0003621 217 Juvenile onset
HP:0006984 217 Distal sensory loss of all modalities
HP:0007141 217 Sensorimotor neuropathy
HP:0006121 217 Acral ulceration
HP:0001218 217 Autoamputation

Cluster *220

HPO Cluster Description
HP:0000007 220 Autosomal recessive inheritance
HP:0001762 220 Talipes equinovarus
HP:0001302 220 Pachygyria
HP:0000557 220 Buphthalmos
HP:0002650 220 Scoliosis
HP:0000518 220 Cataract
HP:0001188 220 Hand clenching
HP:0002804 220 Arthrogryposis multiplex congenita
HP:0003577 220 Congenital onset
HP:0001371 220 Flexion contracture
HP:0001321 220 Cerebellar hypoplasia
HP:0002365 220 Hypoplasia of the brainstem
HP:0007973 220 Retinal dysplasia
HP:0012110 220 Hypoplasia of the pons
HP:0007033 220 Cerebellar dysplasia
HP:0007260 220 Type II lissencephaly
HP:0031882 220 Agyria
HP:0002350 220 Cerebellar cyst
HP:0002803 220 Congenital contracture
HP:0011968 220 Feeding difficulties
HP:0002093 220 Respiratory insufficiency
HP:0006829 220 Severe muscular hypotonia
HP:0030046 220 Hypoglycosylation of alpha-dystroglycan

Cluster *221

HPO Cluster Description
HP:0001270 221 Motor delay
HP:0003828 221 Variable expressivity
HP:0003701 221 Proximal muscle weakness
HP:0010628 221 Facial palsy
HP:0001319 221 Neonatal hypotonia
HP:0001371 221 Flexion contracture
HP:0003324 221 Generalized muscle weakness
HP:0003798 221 Nemaline bodies
HP:0003803 221 Type 1 muscle fiber predominance
HP:0003458 221 EMG: myopathic abnormalities
HP:0003557 221 Increased variability in muscle fiber diameter
HP:0002515 221 Waddling gait
HP:0003388 221 Easy fatigability
HP:0003691 221 Scapular winging
HP:0002355 221 Difficulty walking
HP:0008981 221 Calf muscle hypertrophy
HP:0000467 221 Neck muscle weakness
HP:0003805 221 Rimmed vacuoles
HP:0002058 221 Myopathic facies
HP:0003306 221 Spinal rigidity
HP:0003551 221 Difficulty climbing stairs
HP:0003810 221 Late-onset distal muscle weakness
HP:0003201 221 Rhabdomyolysis
HP:0003200 221 Ragged-red muscle fibers
HP:0003390 221 Sensory axonal neuropathy
HP:0000590 221 Progressive external ophthalmoplegia
HP:0003548 221 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003688 221 Cytochrome C oxidase-negative muscle fibers
HP:0003713 221 Muscle fiber necrosis
HP:0006886 221 Impaired distal vibration sensation
HP:0003391 221 Gowers sign
HP:0000597 221 Ophthalmoparesis
HP:0003722 221 Neck flexor weakness

Cluster *222

HPO Cluster Description
HP:0002460 222 Distal muscle weakness
HP:0002936 222 Distal sensory impairment
HP:0003621 222 Juvenile onset
HP:0001760 222 Abnormality of the foot
HP:0001155 222 Abnormality of the hand
HP:0006984 222 Distal sensory loss of all modalities
HP:0003450 222 Axonal regeneration

Cluster *223

HPO Cluster Description
HP:0000007 223 Autosomal recessive inheritance
HP:0001638 223 Cardiomyopathy
HP:0003593 223 Infantile onset
HP:0001324 223 Muscle weakness
HP:0011675 223 Arrhythmia
HP:0001639 223 Hypertrophic cardiomyopathy
HP:0001414 223 Microvesicular hepatic steatosis
HP:0003546 223 Exercise intolerance
HP:0003323 223 Progressive muscle weakness
HP:0001924 223 Sideroblastic anemia
HP:0008322 223 Abnormal mitochondrial morphology

Cluster *224

HPO Cluster Description
HP:0001638 224 Cardiomyopathy
HP:0003677 224 Slow progression
HP:0003701 224 Proximal muscle weakness
HP:0010628 224 Facial palsy
HP:0003798 224 Nemaline bodies
HP:0003458 224 EMG: myopathic abnormalities
HP:0002515 224 Waddling gait
HP:0003323 224 Progressive muscle weakness
HP:0003736 224 Autophagic vacuoles
HP:0003551 224 Difficulty climbing stairs
HP:0001771 224 Achilles tendon contracture
HP:0003555 224 Muscle fiber splitting
HP:0009063 224 Progressive distal muscle weakness
HP:0002877 224 Nocturnal hypoventilation
HP:0032341 224 Reduced forced vital capacity
HP:0003715 224 Myofibrillar myopathy
HP:0100303 224 Muscle fiber cytoplasmatic inclusion bodies

Cluster *225

HPO Cluster Description
HP:0003394 225 Muscle spasm
HP:0003380 225 Decreased number of peripheral myelinated nerve fibers
HP:0003621 225 Juvenile onset
HP:0002715 225 Abnormality of the immune system
HP:0003201 225 Rhabdomyolysis
HP:0002913 225 Myoglobinuria
HP:0007126 225 Proximal amyotrophy

Cluster *227

HPO Cluster Description
HP:0003701 227 Proximal muscle weakness
HP:0010628 227 Facial palsy
HP:0003324 227 Generalized muscle weakness
HP:0003621 227 Juvenile onset
HP:0003458 227 EMG: myopathic abnormalities
HP:0003691 227 Scapular winging
HP:0001604 227 Vocal cord paresis
HP:0002111 227 Restrictive deficit on pulmonary function testing
HP:0003547 227 Shoulder girdle muscle weakness
HP:0003724 227 Shoulder girdle muscle atrophy
HP:0008981 227 Calf muscle hypertrophy
HP:0003749 227 Pelvic girdle muscle weakness
HP:0007126 227 Proximal amyotrophy
HP:0003551 227 Difficulty climbing stairs
HP:0003704 227 Scapuloperoneal weakness
HP:0011349 227 Abducens palsy
HP:0009130 227 Hand muscle atrophy
HP:0012246 227 Oculomotor nerve palsy
HP:0007230 227 Decreased distal sensory nerve action potential
HP:0003733 227 Thigh hypertrophy

Cluster *229

HPO Cluster Description
HP:0001283 229 Bulbar palsy
HP:0001265 229 Hyporeflexia
HP:0003701 229 Proximal muscle weakness
HP:0003307 229 Hyperlordosis
HP:0010628 229 Facial palsy
HP:0001371 229 Flexion contracture
HP:0003798 229 Nemaline bodies
HP:0003803 229 Type 1 muscle fiber predominance
HP:0001284 229 Areflexia
HP:0009027 229 Foot dorsiflexor weakness
HP:0003458 229 EMG: myopathic abnormalities
HP:0003200 229 Ragged-red muscle fibers
HP:0003557 229 Increased variability in muscle fiber diameter
HP:0002515 229 Waddling gait
HP:0003691 229 Scapular winging
HP:0002747 229 Respiratory insufficiency due to muscle weakness
HP:0003547 229 Shoulder girdle muscle weakness
HP:0008981 229 Calf muscle hypertrophy
HP:0003749 229 Pelvic girdle muscle weakness
HP:0003391 229 Gowers sign
HP:0003805 229 Rimmed vacuoles
HP:0003551 229 Difficulty climbing stairs
HP:0003555 229 Muscle fiber splitting
HP:0003306 229 Spinal rigidity
HP:0003722 229 Neck flexor weakness
HP:0003810 229 Late-onset distal muscle weakness
HP:0008180 229 Mildly elevated creatine kinase

Cluster *230

HPO Cluster Description
HP:0001265 230 Hyporeflexia
HP:0001761 230 Pes cavus
HP:0003376 230 Steppage gait
HP:0003384 230 Peripheral axonal atrophy
HP:0011463 230 Childhood onset
HP:0003474 230 Sensory impairment
HP:0008956 230 Proximal lower limb amyotrophy
HP:0011808 230 Decreased patellar reflex
HP:0001868 230 Autoamputation of foot
HP:0001886 230 Foot osteomyelitis
HP:0012211 230 Abnormal renal physiology
HP:0007141 230 Sensorimotor neuropathy
HP:0030237 230 Hand muscle weakness

Cluster *231

HPO Cluster Description
HP:0003202 231 Skeletal muscle atrophy
HP:0001265 231 Hyporeflexia
HP:0001761 231 Pes cavus
HP:0003693 231 Distal amyotrophy
HP:0001284 231 Areflexia
HP:0001765 231 Hammertoe
HP:0002460 231 Distal muscle weakness
HP:0002936 231 Distal sensory impairment
HP:0003431 231 Decreased motor nerve conduction velocity
HP:0003378 231 Axonal degeneration/regeneration
HP:0003448 231 Decreased sensory nerve conduction velocity
HP:0001604 231 Vocal cord paresis
HP:0003387 231 Decreased number of large peripheral myelinated nerve fibers