Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormality of muscle size (HP:0030236)help
Parent Node:
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obsolete Abnormality of skeletal muscles (HP:0040290)help
..Starting node
..expand
Skeletal muscle atrophy (HP:0003202)help
Term ID: 3202
Name: Skeletal muscle atrophy
Synonym: Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy
Definition: The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Comments:
Reference: HP:0003202
Genes and Diseases:
 
       Child Nodes:
........expandDistal amyotrophy (HP:0003693) help
................... HP:0007149 Distal upper limb amyotrophy
................... HP:0007181 Interosseus muscle atrophy
................... HP:0008944 Distal lower limb amyotrophy
................... HP:0008955 Progressive distal muscular atrophy
........expandScapuloperoneal amyotrophy (HP:0003697) help
........expandGeneralized amyotrophy (HP:0003700) help
................... HP:0009055 Generalized limb muscle atrophy
........expandLimb-girdle muscle atrophy (HP:0003797) help
................... HP:0003724 Shoulder girdle muscle atrophy
................... HP:0006785 Limb-girdle muscular dystrophy
................... HP:0008946 Pelvic girdle amyotrophy
........expandProximal amyotrophy (HP:0007126) help
................... HP:0008948 Proximal upper limb amyotrophy
................... HP:0008956 Proximal lower limb amyotrophy
........expandLower limb amyotrophy (HP:0007210) help
................... HP:0008944 Distal lower limb amyotrophy
........expandSpinal muscular atrophy (HP:0007269) help
................... HP:0006959 Proximal spinal muscular atrophy
................... HP:0007280 Acute infantile spinal muscular atrophy
................... HP:0009037 Segmental spinal muscular atrophy
................... HP:0009067 Progressive spinal muscular atrophy
........expandNonprogressive muscular atrophy (HP:0008964) help
........expandPeroneal muscle atrophy (HP:0009049) help
........expandUpper limb amyotrophy (HP:0009129) help
................... HP:0007149 Distal upper limb amyotrophy
........expandSternocleidomastoid amyotrophy (HP:0012036) help
........expandPectoralis amyotrophy (HP:0012037) help

 Sister Nodes: 
..expandSkeletal muscle fibrosis (HP:0030951) help
..expandSkeletal muscle hypertrophy (HP:0003712) help
..expandSkeletal muscle steatosis (HP:0040291) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003202HP:0003202Skeletal muscle atrophy0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N.
HP:0003202HP:0003202Skeletal muscle atrophy0ABCA1 CL E G H1929OMIM:205400Tangier disease191
HP:0003202HP:0003202Skeletal muscle atrophy0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0003202HP:0003202Skeletal muscle atrophy0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional197
HP:0003202HP:0003202Skeletal muscle atrophy0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency111
HP:0003202HP:0003202Skeletal muscle atrophy0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0003202HP:0003202Skeletal muscle atrophy0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0003202HP:0003202Skeletal muscle atrophy0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal.96
HP:0003202HP:0003202Skeletal muscle atrophy0ACTA1 CL E G H58129ORPHA:97244Rigid spine syndromeHP:0040282 - Frequent96
HP:0003202HP:0003202Skeletal muscle atrophy0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent96
HP:0003202HP:0003202Skeletal muscle atrophy0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0003202HP:0003202Skeletal muscle atrophy0ACTB CL E G H60132ORPHA:64755Becker nevus syndrome72
HP:0003202HP:0003202Skeletal muscle atrophy0ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0003202HP:0003202Skeletal muscle atrophy0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0003202HP:0003202Skeletal muscle atrophy0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0003202HP:0003202Skeletal muscle atrophy0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0003202HP:0003202Skeletal muscle atrophy0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0003202HP:0003202Skeletal muscle atrophy0ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5
HP:0003202HP:0003202Skeletal muscle atrophy0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome86
HP:0003202HP:0003202Skeletal muscle atrophy0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0003202HP:0003202Skeletal muscle atrophy0AGL CL E G H178321OMIM:232400Glycogen storage disease III216
HP:0003202HP:0003202Skeletal muscle atrophy0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0003202HP:0003202Skeletal muscle atrophy0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0003202HP:0003202Skeletal muscle atrophy0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0003202HP:0003202Skeletal muscle atrophy0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0003202HP:0003202Skeletal muscle atrophy0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0003202HP:0003202Skeletal muscle atrophy0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040281 - Very frequent60
HP:0003202HP:0003202Skeletal muscle atrophy0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0003202HP:0003202Skeletal muscle atrophy0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040281 - Very frequent60
HP:0003202HP:0003202Skeletal muscle atrophy0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0003202HP:0003202Skeletal muscle atrophy0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0003202HP:0003202Skeletal muscle atrophy0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0003202HP:0003202Skeletal muscle atrophy0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0003202HP:0003202Skeletal muscle atrophy0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0003202HP:0003202Skeletal muscle atrophy0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0003202HP:0003202Skeletal muscle atrophy0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent114
HP:0003202HP:0003202Skeletal muscle atrophy0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosisHP:0040283 - Occasional114
HP:0003202HP:0003202Skeletal muscle atrophy0AMPD1 CL E G H270468OMIM:615511MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD62
HP:0003202HP:0003202Skeletal muscle atrophy0AMPD2 CL E G H271469ORPHA:401805Autosomal recessive spastic paraplegia type 63HP:0040282 - Frequent21
HP:0003202HP:0003202Skeletal muscle atrophy0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessiveHP:0040283 - Occasional21
HP:0003202HP:0003202Skeletal muscle atrophy0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent32
HP:0003202HP:0003202Skeletal muscle atrophy0ANG CL E G H283483OMIM:611895Amyotrophic lateral sclerosis 932
HP:0003202HP:0003202Skeletal muscle atrophy0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0003202HP:0003202Skeletal muscle atrophy0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0003202HP:0003202Skeletal muscle atrophy0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3304
HP:0003202HP:0003202Skeletal muscle atrophy0ANTXR2 CL E G H11842921732ORPHA:2028Juvenile hyaline fibromatosisHP:0040283 - Occasional49
HP:0003202HP:0003202Skeletal muscle atrophy0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0003202HP:0003202Skeletal muscle atrophy0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040283 - Occasional13
HP:0003202HP:0003202Skeletal muscle atrophy0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0003202HP:0003202Skeletal muscle atrophy0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0003202HP:0003202Skeletal muscle atrophy0AR CL E G H367644ORPHA:481Kennedy diseaseHP:0040281 - Very frequent125
HP:0003202HP:0003202Skeletal muscle atrophy0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional29
HP:0003202HP:0003202Skeletal muscle atrophy0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0003202HP:0003202Skeletal muscle atrophy0ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 661
HP:0003202HP:0003202Skeletal muscle atrophy0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0003202HP:0003202Skeletal muscle atrophy0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0003202HP:0003202Skeletal muscle atrophy0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0003202HP:0003202Skeletal muscle atrophy0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome5
HP:0003202HP:0003202Skeletal muscle atrophy0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0003202HP:0003202Skeletal muscle atrophy0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0003202HP:0003202Skeletal muscle atrophy0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 171
HP:0003202HP:0003202Skeletal muscle atrophy0ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type ID71
HP:0003202HP:0003202Skeletal muscle atrophy0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant71
HP:0003202HP:0003202Skeletal muscle atrophy0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 15
HP:0003202HP:0003202Skeletal muscle atrophy0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040282 - Frequent3267
HP:0003202HP:0003202Skeletal muscle atrophy0ATP1A1 CL E G H476799OMIM:618036Charcot-Marie-Tooth disease, axonal, type 2DD4
HP:0003202HP:0003202Skeletal muscle atrophy0ATP7A CL E G H538869OMIM:300489Spinal muscular atrophy, distal, X-linked 3192
HP:0003202HP:0003202Skeletal muscle atrophy0ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndromeHP:0040282 - Frequent
HP:0003202HP:0003202Skeletal muscle atrophy0ATP8A2 CL E G H5176113533ORPHA:1766Dysequilibrium syndromeHP:0040282 - Frequent24
HP:0003202HP:0003202Skeletal muscle atrophy0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0003202HP:0003202Skeletal muscle atrophy0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0003202HP:0003202Skeletal muscle atrophy0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0003202HP:0003202Skeletal muscle atrophy0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0003202HP:0003202Skeletal muscle atrophy0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0003202HP:0003202Skeletal muscle atrophy0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0003202HP:0003202Skeletal muscle atrophy0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0003202HP:0003202Skeletal muscle atrophy0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0003202HP:0003202Skeletal muscle atrophy0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0003202HP:0003202Skeletal muscle atrophy0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent43
HP:0003202HP:0003202Skeletal muscle atrophy0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040282 - Frequent25
HP:0003202HP:0003202Skeletal muscle atrophy0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive25
HP:0003202HP:0003202Skeletal muscle atrophy0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0003202HP:0003202Skeletal muscle atrophy0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent17
HP:0003202HP:0003202Skeletal muscle atrophy0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6204
HP:0003202HP:0003202Skeletal muscle atrophy0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0003202HP:0003202Skeletal muscle atrophy0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional114
HP:0003202HP:0003202Skeletal muscle atrophy0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional118
HP:0003202HP:0003202Skeletal muscle atrophy0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional71
HP:0003202HP:0003202Skeletal muscle atrophy0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional97
HP:0003202HP:0003202Skeletal muscle atrophy0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional87
HP:0003202HP:0003202Skeletal muscle atrophy0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional25
HP:0003202HP:0003202Skeletal muscle atrophy0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional66
HP:0003202HP:0003202Skeletal muscle atrophy0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional119
HP:0003202HP:0003202Skeletal muscle atrophy0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy46
HP:0003202HP:0003202Skeletal muscle atrophy0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0003202HP:0003202Skeletal muscle atrophy0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0003202HP:0003202Skeletal muscle atrophy0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0003202HP:0003202Skeletal muscle atrophy0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0003202HP:0003202Skeletal muscle atrophy0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIII.49
HP:0003202HP:0003202Skeletal muscle atrophy0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0003202HP:0003202Skeletal muscle atrophy0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0003202HP:0003202Skeletal muscle atrophy0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0003202HP:0003202Skeletal muscle atrophy0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003202HP:0003202Skeletal muscle atrophy0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0003202HP:0003202Skeletal muscle atrophy0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 25.2
HP:0003202HP:0003202Skeletal muscle atrophy0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43114
HP:0003202HP:0003202Skeletal muscle atrophy0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0003202HP:0003202Skeletal muscle atrophy0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive114
HP:0003202HP:0003202Skeletal muscle atrophy0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003202HP:0003202Skeletal muscle atrophy0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent56
HP:0003202HP:0003202Skeletal muscle atrophy0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0003202HP:0003202Skeletal muscle atrophy0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron disease56
HP:0003202HP:0003202Skeletal muscle atrophy0CA8 CL E G H7671382ORPHA:1766Dysequilibrium syndromeHP:0040282 - Frequent8
HP:0003202HP:0003202Skeletal muscle atrophy0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003202HP:0003202Skeletal muscle atrophy0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040282 - Frequent4
HP:0003202HP:0003202Skeletal muscle atrophy0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0003202HP:0003202Skeletal muscle atrophy0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1323
HP:0003202HP:0003202Skeletal muscle atrophy0CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4323
HP:0003202HP:0003202Skeletal muscle atrophy0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0003202HP:0003202Skeletal muscle atrophy0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0003202HP:0003202Skeletal muscle atrophy0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0003202HP:0003202Skeletal muscle atrophy0CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0003202HP:0003202Skeletal muscle atrophy0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO.3
HP:0003202HP:0003202Skeletal muscle atrophy0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0003202HP:0003202Skeletal muscle atrophy0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0003202HP:0003202Skeletal muscle atrophy0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0003202HP:0003202Skeletal muscle atrophy0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040283 - Occasional
HP:0003202HP:0003202Skeletal muscle atrophy0CD59 CL E G H9661689OMIM:612300Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy.3
HP:0003202HP:0003202Skeletal muscle atrophy0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0003202HP:0003202Skeletal muscle atrophy0CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophy
HP:0003202HP:0003202Skeletal muscle atrophy0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0003202HP:0003202Skeletal muscle atrophy0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional342
HP:0003202HP:0003202Skeletal muscle atrophy0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0003202HP:0003202Skeletal muscle atrophy0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0003202HP:0003202Skeletal muscle atrophy0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0003202HP:0003202Skeletal muscle atrophy0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0003202HP:0003202Skeletal muscle atrophy0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron disease11
HP:0003202HP:0003202Skeletal muscle atrophy0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0003202HP:0003202Skeletal muscle atrophy0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type.11
HP:0003202HP:0003202Skeletal muscle atrophy0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent42
HP:0003202HP:0003202Skeletal muscle atrophy0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0003202HP:0003202Skeletal muscle atrophy0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0003202HP:0003202Skeletal muscle atrophy0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional68
HP:0003202HP:0003202Skeletal muscle atrophy0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0003202HP:0003202Skeletal muscle atrophy0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0003202HP:0003202Skeletal muscle atrophy0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0003202HP:0003202Skeletal muscle atrophy0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0003202HP:0003202Skeletal muscle atrophy0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0003202HP:0003202Skeletal muscle atrophy0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0003202HP:0003202Skeletal muscle atrophy0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0003202HP:0003202Skeletal muscle atrophy0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0003202HP:0003202Skeletal muscle atrophy0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0003202HP:0003202Skeletal muscle atrophy0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0003202HP:0003202Skeletal muscle atrophy0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent3
HP:0003202HP:0003202Skeletal muscle atrophy0COL2A1 CL E G H12802200ORPHA:2380Legg-Calvé-Perthes diseaseHP:0040281 - Very frequent284
HP:0003202HP:0003202Skeletal muscle atrophy0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent193
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0003202HP:0003202Skeletal muscle atrophy0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0003202HP:0003202Skeletal muscle atrophy0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0003202HP:0003202Skeletal muscle atrophy0COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0003202HP:0003202Skeletal muscle atrophy0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0003202HP:0003202Skeletal muscle atrophy0CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophy
HP:0003202HP:0003202Skeletal muscle atrophy0CPT1A CL E G H13742328ORPHA:156Carnitine palmitoyl transferase 1A deficiencyHP:0040281 - Very frequent99
HP:0003202HP:0003202Skeletal muscle atrophy0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0003202HP:0003202Skeletal muscle atrophy0CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant.1
HP:0003202HP:0003202Skeletal muscle atrophy0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0003202HP:0003202Skeletal muscle atrophy0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0003202HP:0003202Skeletal muscle atrophy0CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0003202HP:0003202Skeletal muscle atrophy0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0003202HP:0003202Skeletal muscle atrophy0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040283 - Occasional10
HP:0003202HP:0003202Skeletal muscle atrophy0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0003202HP:0003202Skeletal muscle atrophy0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0003202HP:0003202Skeletal muscle atrophy0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0003202HP:0003202Skeletal muscle atrophy0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5A57
HP:0003202HP:0003202Skeletal muscle atrophy0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0003202HP:0003202Skeletal muscle atrophy0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16108
HP:0003202HP:0003202Skeletal muscle atrophy0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent108
HP:0003202HP:0003202Skeletal muscle atrophy0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0003202HP:0003202Skeletal muscle atrophy0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0003202HP:0003202Skeletal muscle atrophy0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0003202HP:0003202Skeletal muscle atrophy0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0003202HP:0003202Skeletal muscle atrophy0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant2
HP:0003202HP:0003202Skeletal muscle atrophy0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent86
HP:0003202HP:0003202Skeletal muscle atrophy0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0003202HP:0003202Skeletal muscle atrophy0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB86
HP:0003202HP:0003202Skeletal muscle atrophy0DES CL E G H16742770OMIM:181400Scapuloperoneal syndrome, neurogenic, Kaeser type263
HP:0003202HP:0003202Skeletal muscle atrophy0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency57
HP:0003202HP:0003202Skeletal muscle atrophy0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0003202HP:0003202Skeletal muscle atrophy0DHH CL E G H508462865ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndromeHP:0040281 - Very frequent21
HP:0003202HP:0003202Skeletal muscle atrophy0DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q.12
HP:0003202HP:0003202Skeletal muscle atrophy0DMD CL E G H17562928ORPHA:98895Becker muscular dystrophyHP:0040283 - Occasional1496
HP:0003202HP:0003202Skeletal muscle atrophy0DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent1496
HP:0003202HP:0003202Skeletal muscle atrophy0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0003202HP:0003202Skeletal muscle atrophy0DNAJB2 CL E G H33005228OMIM:614881Spinal muscular atrophy, distal, autosomal recessive, 5.30
HP:0003202HP:0003202Skeletal muscle atrophy0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0003202HP:0003202Skeletal muscle atrophy0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0003202HP:0003202Skeletal muscle atrophy0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0003202HP:0003202Skeletal muscle atrophy0DNM2 CL E G H17852974OMIM:606482Charcot-Marie-Tooth disease, dominant intermediate B167
HP:0003202HP:0003202Skeletal muscle atrophy0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003202HP:0003202Skeletal muscle atrophy0DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent79
HP:0003202HP:0003202Skeletal muscle atrophy0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequence91
HP:0003202HP:0003202Skeletal muscle atrophy0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0003202HP:0003202Skeletal muscle atrophy0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0003202HP:0003202Skeletal muscle atrophy0DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0003202HP:0003202Skeletal muscle atrophy0DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent
HP:0003202HP:0003202Skeletal muscle atrophy0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant427
HP:0003202HP:0003202Skeletal muscle atrophy0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0003202HP:0003202Skeletal muscle atrophy0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1600
HP:0003202HP:0003202Skeletal muscle atrophy0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003202HP:0003202Skeletal muscle atrophy0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B600
HP:0003202HP:0003202Skeletal muscle atrophy0DYSF CL E G H82913097OMIM:606768Myopathy, distal, with anterior tibial onset600
HP:0003202HP:0003202Skeletal muscle atrophy0EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D58
HP:0003202HP:0003202Skeletal muscle atrophy0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0003202HP:0003202Skeletal muscle atrophy0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive58
HP:0003202HP:0003202Skeletal muscle atrophy0EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked107
HP:0003202HP:0003202Skeletal muscle atrophy0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0003202HP:0003202Skeletal muscle atrophy0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive.3
HP:0003202HP:0003202Skeletal muscle atrophy0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0003202HP:0003202Skeletal muscle atrophy0ERBB3 CL E G H20653431OMIM:607598Lethal congenital contracture syndrome 2.12
HP:0003202HP:0003202Skeletal muscle atrophy0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent15
HP:0003202HP:0003202Skeletal muscle atrophy0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0003202HP:0003202Skeletal muscle atrophy0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0003202HP:0003202Skeletal muscle atrophy0ERGIC1 CL E G H5722229205OMIM:208100Arthrogryposis multiplex congenita, Neurogenic type.
HP:0003202HP:0003202Skeletal muscle atrophy0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0003202HP:0003202Skeletal muscle atrophy0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 62HP:0040283 - Occasional2
HP:0003202HP:0003202Skeletal muscle atrophy0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0003202HP:0003202Skeletal muscle atrophy0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosisHP:0040283 - Occasional18
HP:0003202HP:0003202Skeletal muscle atrophy0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0003202HP:0003202Skeletal muscle atrophy0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0003202HP:0003202Skeletal muscle atrophy0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0003202HP:0003202Skeletal muscle atrophy0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0003202HP:0003202Skeletal muscle atrophy0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0003202HP:0003202Skeletal muscle atrophy0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0003202HP:0003202Skeletal muscle atrophy0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0003202HP:0003202Skeletal muscle atrophy0FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.6
HP:0003202HP:0003202Skeletal muscle atrophy0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0003202HP:0003202Skeletal muscle atrophy0FARS2 CL E G H1066721062OMIM:617046Spastic paraplegia 77, autosomal recessive36
HP:0003202HP:0003202Skeletal muscle atrophy0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0003202HP:0003202Skeletal muscle atrophy0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0003202HP:0003202Skeletal muscle atrophy0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0003202HP:0003202Skeletal muscle atrophy0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003202HP:0003202Skeletal muscle atrophy0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0003202HP:0003202Skeletal muscle atrophy0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0003202HP:0003202Skeletal muscle atrophy0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0003202HP:0003202Skeletal muscle atrophy0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0003202HP:0003202Skeletal muscle atrophy0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent111
HP:0003202HP:0003202Skeletal muscle atrophy0FIG4 CL E G H989616873OMIM:612577Amyotrophic lateral sclerosis 11111
HP:0003202HP:0003202Skeletal muscle atrophy0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0003202HP:0003202Skeletal muscle atrophy0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2.13
HP:0003202HP:0003202Skeletal muscle atrophy0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040281 - Very frequent13
HP:0003202HP:0003202Skeletal muscle atrophy0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0003202HP:0003202Skeletal muscle atrophy0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0003202HP:0003202Skeletal muscle atrophy0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent157
HP:0003202HP:0003202Skeletal muscle atrophy0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0003202HP:0003202Skeletal muscle atrophy0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0003202HP:0003202Skeletal muscle atrophy0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent184
HP:0003202HP:0003202Skeletal muscle atrophy0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0003202HP:0003202Skeletal muscle atrophy0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0003202HP:0003202Skeletal muscle atrophy0FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4.197
HP:0003202HP:0003202Skeletal muscle atrophy0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0003202HP:0003202Skeletal muscle atrophy0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa.111
HP:0003202HP:0003202Skeletal muscle atrophy0FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent1
HP:0003202HP:0003202Skeletal muscle atrophy0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0003202HP:0003202Skeletal muscle atrophy0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0003202HP:0003202Skeletal muscle atrophy0FUS CL E G H25214010OMIM:608030Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia105
HP:0003202HP:0003202Skeletal muscle atrophy0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron disease105
HP:0003202HP:0003202Skeletal muscle atrophy0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent105
HP:0003202HP:0003202Skeletal muscle atrophy0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type II3
HP:0003202HP:0003202Skeletal muscle atrophy0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0003202HP:0003202Skeletal muscle atrophy0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0003202HP:0003202Skeletal muscle atrophy0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003202HP:0003202Skeletal muscle atrophy0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0003202HP:0003202Skeletal muscle atrophy0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA
HP:0003202HP:0003202Skeletal muscle atrophy0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003202HP:0003202Skeletal muscle atrophy0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0003202HP:0003202Skeletal muscle atrophy0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0003202HP:0003202Skeletal muscle atrophy0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003202HP:0003202Skeletal muscle atrophy0GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2KHP:0040282 - Frequent108
HP:0003202HP:0003202Skeletal muscle atrophy0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003202HP:0003202Skeletal muscle atrophy0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0003202HP:0003202Skeletal muscle atrophy0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K108
HP:0003202HP:0003202Skeletal muscle atrophy0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0003202HP:0003202Skeletal muscle atrophy0GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A108
HP:0003202HP:0003202Skeletal muscle atrophy0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0003202HP:0003202Skeletal muscle atrophy0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0003202HP:0003202Skeletal muscle atrophy0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1128
HP:0003202HP:0003202Skeletal muscle atrophy0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0003202HP:0003202Skeletal muscle atrophy0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0003202HP:0003202Skeletal muscle atrophy0GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1107
HP:0003202HP:0003202Skeletal muscle atrophy0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0003202HP:0003202Skeletal muscle atrophy0GLB1 CL E G H27204298OMIM:230650Gm1-gangliosidosis, type III.120
HP:0003202HP:0003202Skeletal muscle atrophy0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent45
HP:0003202HP:0003202Skeletal muscle atrophy0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0003202HP:0003202Skeletal muscle atrophy0GLE1 CL E G H27334315OMIM:253310Lethal congenital contracture syndrome 1.45
HP:0003202HP:0003202Skeletal muscle atrophy0GLE1 CL E G H27334315ORPHA:1486Lethal congenital contracture syndrome type 1HP:0040281 - Very frequent45
HP:0003202HP:0003202Skeletal muscle atrophy0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0003202HP:0003202Skeletal muscle atrophy0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0003202HP:0003202Skeletal muscle atrophy0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0003202HP:0003202Skeletal muscle atrophy0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0003202HP:0003202Skeletal muscle atrophy0GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0003202HP:0003202Skeletal muscle atrophy0GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0003202HP:0003202Skeletal muscle atrophy0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0003202HP:0003202Skeletal muscle atrophy0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 2.18
HP:0003202HP:0003202Skeletal muscle atrophy0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0003202HP:0003202Skeletal muscle atrophy0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0003202HP:0003202Skeletal muscle atrophy0HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W
HP:0003202HP:0003202Skeletal muscle atrophy0HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0003202HP:0003202Skeletal muscle atrophy0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0003202HP:0003202Skeletal muscle atrophy0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0003202HP:0003202Skeletal muscle atrophy0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive.12
HP:0003202HP:0003202Skeletal muscle atrophy0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0003202HP:0003202Skeletal muscle atrophy0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0003202HP:0003202Skeletal muscle atrophy0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0003202HP:0003202Skeletal muscle atrophy0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0003202HP:0003202Skeletal muscle atrophy0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia31
HP:0003202HP:0003202Skeletal muscle atrophy0HNRNPA2B1 CL E G H31815033OMIM:615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2.5
HP:0003202HP:0003202Skeletal muscle atrophy0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia5
HP:0003202HP:0003202Skeletal muscle atrophy0HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G5
HP:0003202HP:0003202Skeletal muscle atrophy0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2F47
HP:0003202HP:0003202Skeletal muscle atrophy0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F47
HP:0003202HP:0003202Skeletal muscle atrophy0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0003202HP:0003202Skeletal muscle atrophy0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L38
HP:0003202HP:0003202Skeletal muscle atrophy0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0003202HP:0003202Skeletal muscle atrophy0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0003202HP:0003202Skeletal muscle atrophy0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0003202HP:0003202Skeletal muscle atrophy0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0003202HP:0003202Skeletal muscle atrophy0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0003202HP:0003202Skeletal muscle atrophy0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0003202HP:0003202Skeletal muscle atrophy0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040283 - Occasional1
HP:0003202HP:0003202Skeletal muscle atrophy0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional48
HP:0003202HP:0003202Skeletal muscle atrophy0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0003202HP:0003202Skeletal muscle atrophy0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional3
HP:0003202HP:0003202Skeletal muscle atrophy0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0003202HP:0003202Skeletal muscle atrophy0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E135
HP:0003202HP:0003202Skeletal muscle atrophy0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent7
HP:0003202HP:0003202Skeletal muscle atrophy0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability7
HP:0003202HP:0003202Skeletal muscle atrophy0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0003202HP:0003202Skeletal muscle atrophy0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0003202HP:0003202Skeletal muscle atrophy0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0003202HP:0003202Skeletal muscle atrophy0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency.127
HP:0003202HP:0003202Skeletal muscle atrophy0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003202HP:0003202Skeletal muscle atrophy0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003202HP:0003202Skeletal muscle atrophy0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K1
HP:0003202HP:0003202Skeletal muscle atrophy0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0003202HP:0003202Skeletal muscle atrophy0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0003202HP:0003202Skeletal muscle atrophy0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0003202HP:0003202Skeletal muscle atrophy0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0003202HP:0003202Skeletal muscle atrophy0KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 680
HP:0003202HP:0003202Skeletal muscle atrophy0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0003202HP:0003202Skeletal muscle atrophy0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0003202HP:0003202Skeletal muscle atrophy0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30276
HP:0003202HP:0003202Skeletal muscle atrophy0KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent276
HP:0003202HP:0003202Skeletal muscle atrophy0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0003202HP:0003202Skeletal muscle atrophy0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive276
HP:0003202HP:0003202Skeletal muscle atrophy0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0003202HP:0003202Skeletal muscle atrophy0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0003202HP:0003202Skeletal muscle atrophy0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0003202HP:0003202Skeletal muscle atrophy0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 1093
HP:0003202HP:0003202Skeletal muscle atrophy0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0003202HP:0003202Skeletal muscle atrophy0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome1
HP:0003202HP:0003202Skeletal muscle atrophy0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent28
HP:0003202HP:0003202Skeletal muscle atrophy0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0003202HP:0003202Skeletal muscle atrophy0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0003202HP:0003202Skeletal muscle atrophy0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent13
HP:0003202HP:0003202Skeletal muscle atrophy0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0003202HP:0003202Skeletal muscle atrophy0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0003202HP:0003202Skeletal muscle atrophy0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0003202HP:0003202Skeletal muscle atrophy0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0003202HP:0003202Skeletal muscle atrophy0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0003202HP:0003202Skeletal muscle atrophy0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0003202HP:0003202Skeletal muscle atrophy0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0003202HP:0003202Skeletal muscle atrophy0LAMP2 CL E G H39206501OMIM:300257Danon disease211
HP:0003202HP:0003202Skeletal muscle atrophy0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent136
HP:0003202HP:0003202Skeletal muscle atrophy0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0003202HP:0003202Skeletal muscle atrophy0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0003202HP:0003202Skeletal muscle atrophy0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0003202HP:0003202Skeletal muscle atrophy0LETM1 CL E G H39546556OMIM:6200892
HP:0003202HP:0003202Skeletal muscle atrophy0LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0003202HP:0003202Skeletal muscle atrophy0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0003202HP:0003202Skeletal muscle atrophy0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1645
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040282 - Frequent645
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H40006636OMIM:616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive645
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related645
HP:0003202HP:0003202Skeletal muscle atrophy0LMNB2 CL E G H848236638OMIM:616540Epilepsy, progressive myoclonic, 911
HP:0003202HP:0003202Skeletal muscle atrophy0LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 10.11
HP:0003202HP:0003202Skeletal muscle atrophy0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent11
HP:0003202HP:0003202Skeletal muscle atrophy0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0003202HP:0003202Skeletal muscle atrophy0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0003202HP:0003202Skeletal muscle atrophy0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P102
HP:0003202HP:0003202Skeletal muscle atrophy0LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent92
HP:0003202HP:0003202Skeletal muscle atrophy0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional4
HP:0003202HP:0003202Skeletal muscle atrophy0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0003202HP:0003202Skeletal muscle atrophy0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 754
HP:0003202HP:0003202Skeletal muscle atrophy0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0003202HP:0003202Skeletal muscle atrophy0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0003202HP:0003202Skeletal muscle atrophy0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003202HP:0003202Skeletal muscle atrophy0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent80
HP:0003202HP:0003202Skeletal muscle atrophy0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0003202HP:0003202Skeletal muscle atrophy0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0003202HP:0003202Skeletal muscle atrophy0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51.4
HP:0003202HP:0003202Skeletal muscle atrophy0MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0003202HP:0003202Skeletal muscle atrophy0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040282 - Frequent950
HP:0003202HP:0003202Skeletal muscle atrophy0MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B243
HP:0003202HP:0003202Skeletal muscle atrophy0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003202HP:0003202Skeletal muscle atrophy0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A203
HP:0003202HP:0003202Skeletal muscle atrophy0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0003202HP:0003202Skeletal muscle atrophy0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0003202HP:0003202Skeletal muscle atrophy0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0003202HP:0003202Skeletal muscle atrophy0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0003202HP:0003202Skeletal muscle atrophy0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0003202HP:0003202Skeletal muscle atrophy0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional69
HP:0003202HP:0003202Skeletal muscle atrophy0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional127
HP:0003202HP:0003202Skeletal muscle atrophy0MLIP CL E G H9052321355OMIM:620138
HP:0003202HP:0003202Skeletal muscle atrophy0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0003202HP:0003202Skeletal muscle atrophy0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 4318
HP:0003202HP:0003202Skeletal muscle atrophy0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0003202HP:0003202Skeletal muscle atrophy0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003202HP:0003202Skeletal muscle atrophy0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0003202HP:0003202Skeletal muscle atrophy0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1BHP:0040282 - Frequent134
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H43597225OMIM:607677Charcot-Marie-Tooth disease, axonal, type 2I134
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B134
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H43597225OMIM:607791Charcot-Marie-Tooth disease, dominant intermediate D134
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional134
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0003202HP:0003202Skeletal muscle atrophy0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1532
HP:0003202HP:0003202Skeletal muscle atrophy0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0003202HP:0003202Skeletal muscle atrophy0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia
HP:0003202HP:0003202Skeletal muscle atrophy0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma.85
HP:0003202HP:0003202Skeletal muscle atrophy0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003202HP:0003202Skeletal muscle atrophy0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B188
HP:0003202HP:0003202Skeletal muscle atrophy0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0003202HP:0003202Skeletal muscle atrophy0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040281 - Very frequent
HP:0003202HP:0003202Skeletal muscle atrophy0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0003202HP:0003202Skeletal muscle atrophy0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0003202HP:0003202Skeletal muscle atrophy0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence72
HP:0003202HP:0003202Skeletal muscle atrophy0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequence72
HP:0003202HP:0003202Skeletal muscle atrophy0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0003202HP:0003202Skeletal muscle atrophy0MYBPC1 CL E G H46047549OMIM:614915Lethal congenital contracture syndrome 4.66
HP:0003202HP:0003202Skeletal muscle atrophy0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss.227
HP:0003202HP:0003202Skeletal muscle atrophy0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional166
HP:0003202HP:0003202Skeletal muscle atrophy0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0003202HP:0003202Skeletal muscle atrophy0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0003202HP:0003202Skeletal muscle atrophy0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0003202HP:0003202Skeletal muscle atrophy0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0003202HP:0003202Skeletal muscle atrophy0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0003202HP:0003202Skeletal muscle atrophy0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0003202HP:0003202Skeletal muscle atrophy0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0003202HP:0003202Skeletal muscle atrophy0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0003202HP:0003202Skeletal muscle atrophy0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0003202HP:0003202Skeletal muscle atrophy0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequence
HP:0003202HP:0003202Skeletal muscle atrophy0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0003202HP:0003202Skeletal muscle atrophy0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0003202HP:0003202Skeletal muscle atrophy0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY75
HP:0003202HP:0003202Skeletal muscle atrophy0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0003202HP:0003202Skeletal muscle atrophy0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0003202HP:0003202Skeletal muscle atrophy0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 147
HP:0003202HP:0003202Skeletal muscle atrophy0NAGA CL E G H46687631OMIM:609241Schindler disease, type I47
HP:0003202HP:0003202Skeletal muscle atrophy0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0003202HP:0003202Skeletal muscle atrophy0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0003202HP:0003202Skeletal muscle atrophy0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040283 - Occasional706
HP:0003202HP:0003202Skeletal muscle atrophy0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0003202HP:0003202Skeletal muscle atrophy0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0003202HP:0003202Skeletal muscle atrophy0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D82
HP:0003202HP:0003202Skeletal muscle atrophy0NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 23.7
HP:0003202HP:0003202Skeletal muscle atrophy0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0003202HP:0003202Skeletal muscle atrophy0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0003202HP:0003202Skeletal muscle atrophy0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 17.39
HP:0003202HP:0003202Skeletal muscle atrophy0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0003202HP:0003202Skeletal muscle atrophy0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0003202HP:0003202Skeletal muscle atrophy0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathy745
HP:0003202HP:0003202Skeletal muscle atrophy0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0003202HP:0003202Skeletal muscle atrophy0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003202HP:0003202Skeletal muscle atrophy0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent745
HP:0003202HP:0003202Skeletal muscle atrophy0NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent24
HP:0003202HP:0003202Skeletal muscle atrophy0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0003202HP:0003202Skeletal muscle atrophy0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003202HP:0003202Skeletal muscle atrophy0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0003202HP:0003202Skeletal muscle atrophy0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040281 - Very frequent118
HP:0003202HP:0003202Skeletal muscle atrophy0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0003202HP:0003202Skeletal muscle atrophy0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0003202HP:0003202Skeletal muscle atrophy0NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent101
HP:0003202HP:0003202Skeletal muscle atrophy0NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24101
HP:0003202HP:0003202Skeletal muscle atrophy0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0003202HP:0003202Skeletal muscle atrophy0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0003202HP:0003202Skeletal muscle atrophy0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040282 - Frequent43
HP:0003202HP:0003202Skeletal muscle atrophy0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0003202HP:0003202Skeletal muscle atrophy0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0003202HP:0003202Skeletal muscle atrophy0NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6HP:0040282 - Frequent117
HP:0003202HP:0003202Skeletal muscle atrophy0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0003202HP:0003202Skeletal muscle atrophy0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0003202HP:0003202Skeletal muscle atrophy0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0003202HP:0003202Skeletal muscle atrophy0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003202HP:0003202Skeletal muscle atrophy0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional85
HP:0003202HP:0003202Skeletal muscle atrophy0NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040283 - Occasional13
HP:0003202HP:0003202Skeletal muscle atrophy0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0003202HP:0003202Skeletal muscle atrophy0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequence
HP:0003202HP:0003202Skeletal muscle atrophy0NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4.
HP:0003202HP:0003202Skeletal muscle atrophy0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency
HP:0003202HP:0003202Skeletal muscle atrophy0OGDH CL E G H49678124ORPHA:31Oxoglutaric aciduriaHP:0040281 - Very frequent
HP:0003202HP:0003202Skeletal muscle atrophy0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0003202HP:0003202Skeletal muscle atrophy0OPA1 CL E G H49768140OMIM:616896MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14214
HP:0003202HP:0003202Skeletal muscle atrophy0OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0003202HP:0003202Skeletal muscle atrophy0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0003202HP:0003202Skeletal muscle atrophy0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent13
HP:0003202HP:0003202Skeletal muscle atrophy0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent75
HP:0003202HP:0003202Skeletal muscle atrophy0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0003202HP:0003202Skeletal muscle atrophy0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0003202HP:0003202Skeletal muscle atrophy0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0003202HP:0003202Skeletal muscle atrophy0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0003202HP:0003202Skeletal muscle atrophy0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0003202HP:0003202Skeletal muscle atrophy0PFKM CL E G H52138877ORPHA:371Glycogen storage disease due to muscle phosphofructokinase deficiencyHP:0040282 - Frequent64
HP:0003202HP:0003202Skeletal muscle atrophy0PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0003202HP:0003202Skeletal muscle atrophy0PFN1 CL E G H52168881OMIM:614808AMYOTROPHIC LATERAL SCLEROSIS 18; ALS186
HP:0003202HP:0003202Skeletal muscle atrophy0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 6720
HP:0003202HP:0003202Skeletal muscle atrophy0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0003202HP:0003202Skeletal muscle atrophy0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040283 - Occasional29
HP:0003202HP:0003202Skeletal muscle atrophy0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked.54
HP:0003202HP:0003202Skeletal muscle atrophy0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional54
HP:0003202HP:0003202Skeletal muscle atrophy0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0003202HP:0003202Skeletal muscle atrophy0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional48
HP:0003202HP:0003202Skeletal muscle atrophy0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0003202HP:0003202Skeletal muscle atrophy0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0003202HP:0003202Skeletal muscle atrophy0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0003202HP:0003202Skeletal muscle atrophy0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12
HP:0003202HP:0003202Skeletal muscle atrophy0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 311
HP:0003202HP:0003202Skeletal muscle atrophy0PIP5K1C CL E G H233968996OMIM:611369Lethal congenital contracture syndrome 31
HP:0003202HP:0003202Skeletal muscle atrophy0PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q.759
HP:0003202HP:0003202Skeletal muscle atrophy0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759
HP:0003202HP:0003202Skeletal muscle atrophy0PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C186
HP:0003202HP:0003202Skeletal muscle atrophy0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4186
HP:0003202HP:0003202Skeletal muscle atrophy0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0003202HP:0003202Skeletal muscle atrophy0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal form60
HP:0003202HP:0003202Skeletal muscle atrophy0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked.60
HP:0003202HP:0003202Skeletal muscle atrophy0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0003202HP:0003202Skeletal muscle atrophy0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0003202HP:0003202Skeletal muscle atrophy0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness79
HP:0003202HP:0003202Skeletal muscle atrophy0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040282 - Frequent79
HP:0003202HP:0003202Skeletal muscle atrophy0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0003202HP:0003202Skeletal muscle atrophy0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A79
HP:0003202HP:0003202Skeletal muscle atrophy0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0003202HP:0003202Skeletal muscle atrophy0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional79
HP:0003202HP:0003202Skeletal muscle atrophy0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0003202HP:0003202Skeletal muscle atrophy0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4244
HP:0003202HP:0003202Skeletal muscle atrophy0PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2244
HP:0003202HP:0003202Skeletal muscle atrophy0PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delay.244
HP:0003202HP:0003202Skeletal muscle atrophy0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0003202HP:0003202Skeletal muscle atrophy0PNPLA6 CL E G H1090816268ORPHA:139480Autosomal recessive spastic paraplegia type 39103
HP:0003202HP:0003202Skeletal muscle atrophy0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0003202HP:0003202Skeletal muscle atrophy0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0003202HP:0003202Skeletal muscle atrophy0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0003202HP:0003202Skeletal muscle atrophy0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0003202HP:0003202Skeletal muscle atrophy0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)464
HP:0003202HP:0003202Skeletal muscle atrophy0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003202HP:0003202Skeletal muscle atrophy0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0003202HP:0003202Skeletal muscle atrophy0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0003202HP:0003202Skeletal muscle atrophy0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0003202HP:0003202Skeletal muscle atrophy0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0003202HP:0003202Skeletal muscle atrophy0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0003202HP:0003202Skeletal muscle atrophy0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent180
HP:0003202HP:0003202Skeletal muscle atrophy0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent33
HP:0003202HP:0003202Skeletal muscle atrophy0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent18
HP:0003202HP:0003202Skeletal muscle atrophy0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0003202HP:0003202Skeletal muscle atrophy0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0003202HP:0003202Skeletal muscle atrophy0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent213
HP:0003202HP:0003202Skeletal muscle atrophy0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14221
HP:0003202HP:0003202Skeletal muscle atrophy0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent221
HP:0003202HP:0003202Skeletal muscle atrophy0PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0003202HP:0003202Skeletal muscle atrophy0PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent2
HP:0003202HP:0003202Skeletal muscle atrophy0PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0003202HP:0003202Skeletal muscle atrophy0PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0003202HP:0003202Skeletal muscle atrophy0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent2
HP:0003202HP:0003202Skeletal muscle atrophy0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent134
HP:0003202HP:0003202Skeletal muscle atrophy0PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent25
HP:0003202HP:0003202Skeletal muscle atrophy0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0003202HP:0003202Skeletal muscle atrophy0PRPS1 CL E G H56319462OMIM:311070Charcot-Marie-Tooth disease, X-linked recessive, 549
HP:0003202HP:0003202Skeletal muscle atrophy0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0003202HP:0003202Skeletal muscle atrophy0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F.170
HP:0003202HP:0003202Skeletal muscle atrophy0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0003202HP:0003202Skeletal muscle atrophy0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0003202HP:0003202Skeletal muscle atrophy0PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003202HP:0003202Skeletal muscle atrophy0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0003202HP:0003202Skeletal muscle atrophy0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0003202HP:0003202Skeletal muscle atrophy0PUS1 CL E G H8032415508ORPHA:2598Mitochondrial myopathy and sideroblastic anemia57
HP:0003202HP:0003202Skeletal muscle atrophy0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 157
HP:0003202HP:0003202Skeletal muscle atrophy0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0003202HP:0003202Skeletal muscle atrophy0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040282 - Frequent11
HP:0003202HP:0003202Skeletal muscle atrophy0PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040283 - Occasional166
HP:0003202HP:0003202Skeletal muscle atrophy0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0003202HP:0003202Skeletal muscle atrophy0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0003202HP:0003202Skeletal muscle atrophy0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome150
HP:0003202HP:0003202Skeletal muscle atrophy0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequence73
HP:0003202HP:0003202Skeletal muscle atrophy0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0003202HP:0003202Skeletal muscle atrophy0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0003202HP:0003202Skeletal muscle atrophy0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0003202HP:0003202Skeletal muscle atrophy0RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0003202HP:0003202Skeletal muscle atrophy0REEP1 CL E G H6505525786OMIM:62001187
HP:0003202HP:0003202Skeletal muscle atrophy0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 3187
HP:0003202HP:0003202Skeletal muscle atrophy0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0003202HP:0003202Skeletal muscle atrophy0REEP1 CL E G H6505525786OMIM:614751Neuronopathy, distal hereditary motor, type VB87
HP:0003202HP:0003202Skeletal muscle atrophy0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant.87
HP:0003202HP:0003202Skeletal muscle atrophy0RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent54
HP:0003202HP:0003202Skeletal muscle atrophy0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0003202HP:0003202Skeletal muscle atrophy0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent3
HP:0003202HP:0003202Skeletal muscle atrophy0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0003202HP:0003202Skeletal muscle atrophy0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0003202HP:0003202Skeletal muscle atrophy0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040283 - Occasional65
HP:0003202HP:0003202Skeletal muscle atrophy0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent125
HP:0003202HP:0003202Skeletal muscle atrophy0RRM2B CL E G H5048417296ORPHA:480Kearns-Sayre syndromeHP:0040282 - Frequent125
HP:0003202HP:0003202Skeletal muscle atrophy0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 1225
HP:0003202HP:0003202Skeletal muscle atrophy0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0003202HP:0003202Skeletal muscle atrophy0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0003202HP:0003202Skeletal muscle atrophy0RYR1 CL E G H626110483OMIM:117000Central core disease.1200
HP:0003202HP:0003202Skeletal muscle atrophy0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0003202HP:0003202Skeletal muscle atrophy0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0003202HP:0003202Skeletal muscle atrophy0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0003202HP:0003202Skeletal muscle atrophy0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0003202HP:0003202Skeletal muscle atrophy0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0003202HP:0003202Skeletal muscle atrophy0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0003202HP:0003202Skeletal muscle atrophy0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0003202HP:0003202Skeletal muscle atrophy0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2180
HP:0003202HP:0003202Skeletal muscle atrophy0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0003202HP:0003202Skeletal muscle atrophy0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040283 - Occasional263
HP:0003202HP:0003202Skeletal muscle atrophy0SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated263
HP:0003202HP:0003202Skeletal muscle atrophy0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0003202HP:0003202Skeletal muscle atrophy0SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040283 - Occasional1134
HP:0003202HP:0003202Skeletal muscle atrophy0SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent318
HP:0003202HP:0003202Skeletal muscle atrophy0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0003202HP:0003202Skeletal muscle atrophy0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0003202HP:0003202Skeletal muscle atrophy0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0003202HP:0003202Skeletal muscle atrophy0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional61
HP:0003202HP:0003202Skeletal muscle atrophy0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0003202HP:0003202Skeletal muscle atrophy0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0003202HP:0003202Skeletal muscle atrophy0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0003202HP:0003202Skeletal muscle atrophy0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0003202HP:0003202Skeletal muscle atrophy0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathy144
HP:0003202HP:0003202Skeletal muscle atrophy0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0003202HP:0003202Skeletal muscle atrophy0SELENON CL E G H5719015999ORPHA:97244Rigid spine syndromeHP:0040282 - Frequent144
HP:0003202HP:0003202Skeletal muscle atrophy0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0003202HP:0003202Skeletal muscle atrophy0SEPTIN9 CL E G H108017323OMIM:162100Amyotrophy, hereditary neuralgic.
HP:0003202HP:0003202Skeletal muscle atrophy0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0003202HP:0003202Skeletal muscle atrophy0SETX CL E G H23064445ORPHA:357043Amyotrophic lateral sclerosis type 4HP:0040282 - Frequent162
HP:0003202HP:0003202Skeletal muscle atrophy0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0003202HP:0003202Skeletal muscle atrophy0SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0003202HP:0003202Skeletal muscle atrophy0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0003202HP:0003202Skeletal muscle atrophy0SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E113
HP:0003202HP:0003202Skeletal muscle atrophy0SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6223
HP:0003202HP:0003202Skeletal muscle atrophy0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F223
HP:0003202HP:0003202Skeletal muscle atrophy0SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C.83
HP:0003202HP:0003202Skeletal muscle atrophy0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0003202HP:0003202Skeletal muscle atrophy0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0003202HP:0003202Skeletal muscle atrophy0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent6
HP:0003202HP:0003202Skeletal muscle atrophy0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 26
HP:0003202HP:0003202Skeletal muscle atrophy0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent67
HP:0003202HP:0003202Skeletal muscle atrophy0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0003202HP:0003202Skeletal muscle atrophy0SLC12A6 CL E G H999010914OMIM:620068163
HP:0003202HP:0003202Skeletal muscle atrophy0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0003202HP:0003202Skeletal muscle atrophy0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0003202HP:0003202Skeletal muscle atrophy0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0003202HP:0003202Skeletal muscle atrophy0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequence2
HP:0003202HP:0003202Skeletal muscle atrophy0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003202HP:0003202Skeletal muscle atrophy0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0003202HP:0003202Skeletal muscle atrophy0SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type).36
HP:0003202HP:0003202Skeletal muscle atrophy0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0003202HP:0003202Skeletal muscle atrophy0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)HP:0040283 - Occasional68
HP:0003202HP:0003202Skeletal muscle atrophy0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0003202HP:0003202Skeletal muscle atrophy0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0003202HP:0003202Skeletal muscle atrophy0SLC33A1 CL E G H919795ORPHA:171863Autosomal dominant spastic paraplegia type 4248
HP:0003202HP:0003202Skeletal muscle atrophy0SLC33A1 CL E G H919795OMIM:612539Spastic paraplegia 42, autosomal dominant.48
HP:0003202HP:0003202Skeletal muscle atrophy0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0003202HP:0003202Skeletal muscle atrophy0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0003202HP:0003202Skeletal muscle atrophy0SLC46A1 CL E G H11323530521ORPHA:90045Hereditary folate malabsorptionHP:0040283 - Occasional101
HP:0003202HP:0003202Skeletal muscle atrophy0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0003202HP:0003202Skeletal muscle atrophy0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0003202HP:0003202Skeletal muscle atrophy0SLC5A6 CL E G H888411041OMIM:619903
HP:0003202HP:0003202Skeletal muscle atrophy0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic9
HP:0003202HP:0003202Skeletal muscle atrophy0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA9
HP:0003202HP:0003202Skeletal muscle atrophy0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0003202HP:0003202Skeletal muscle atrophy0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0003202HP:0003202Skeletal muscle atrophy0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0003202HP:0003202Skeletal muscle atrophy0SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent174
HP:0003202HP:0003202Skeletal muscle atrophy0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0003202HP:0003202Skeletal muscle atrophy0SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II.22
HP:0003202HP:0003202Skeletal muscle atrophy0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0003202HP:0003202Skeletal muscle atrophy0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0003202HP:0003202Skeletal muscle atrophy0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0003202HP:0003202Skeletal muscle atrophy0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0003202HP:0003202Skeletal muscle atrophy0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003202HP:0003202Skeletal muscle atrophy0SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent53
HP:0003202HP:0003202Skeletal muscle atrophy0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0003202HP:0003202Skeletal muscle atrophy0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0003202HP:0003202Skeletal muscle atrophy0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0003202HP:0003202Skeletal muscle atrophy0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0003202HP:0003202Skeletal muscle atrophy0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4208