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
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Skeletal muscle hypertrophy (HP:0003712)help
Term ID: 3712
Name: Skeletal muscle hypertrophy
Synonym: Hypertrophic muscles; Increased skeletal muscle cells; Muscle hypertrophy; Muscular hypertrophy
Definition: Abnormal increase in muscle size and mass not due to training.
Comments:
Reference: HP:0003712
Genes and Diseases:
 
       Child Nodes:
........expandMacroglossia (HP:0000158) help
................... HP:0030284 Triangular tongue
................... HP:0100875 Hemimacroglossia
........expandGeneralized muscle hypertrophy (HP:0003720) help
........expandMuscle hypertrophy of the lower extremities (HP:0008968) help
................... HP:0003733 Thigh hypertrophy
................... HP:0008981 Calf muscle hypertrophy
........expandMarked muscular hypertrophy (HP:0009042) help
........expandFacial muscle hypertrophy (HP:0012892) help
........expandNeck muscle hypertrophy (HP:0012893) help
........expandParaspinal muscle hypertrophy (HP:0012894) help
........expandScapular muscle hypertrophy (HP:0012895) help
........expandUpper limb muscle hypertrophy (HP:0040265) help
................... HP:0040266 Proximal upper limb muscle hypertrophy
................... HP:0040267 Distal upper limb muscle hypertrophy

 Sister Nodes: 
..expandSkeletal muscle atrophy (HP:0003202) help
..expandSkeletal muscle fibrosis (HP:0030951) 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:0003712HP:0003712Skeletal muscle hypertrophy0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitus245
HP:0003712HP:0003712Skeletal muscle hypertrophy0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0003712HP:0003712Skeletal muscle hypertrophy0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0003712HP:0003712Skeletal muscle hypertrophy0AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0003712HP:0003712Skeletal muscle hypertrophy0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0003712HP:0003712Skeletal muscle hypertrophy0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent85
HP:0003712HP:0003712Skeletal muscle hypertrophy0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0003712HP:0003712Skeletal muscle hypertrophy0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0003712HP:0003712Skeletal muscle hypertrophy0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0003712HP:0003712Skeletal muscle hypertrophy0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDG66
HP:0003712HP:0003712Skeletal muscle hypertrophy0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0003712HP:0003712Skeletal muscle hypertrophy0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 921
HP:0003712HP:0003712Skeletal muscle hypertrophy0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0003712HP:0003712Skeletal muscle hypertrophy0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3304
HP:0003712HP:0003712Skeletal muscle hypertrophy0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0003712HP:0003712Skeletal muscle hypertrophy0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1125
HP:0003712HP:0003712Skeletal muscle hypertrophy0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0003712HP:0003712Skeletal muscle hypertrophy0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0003712HP:0003712Skeletal muscle hypertrophy0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0003712HP:0003712Skeletal muscle hypertrophy0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0003712HP:0003712Skeletal muscle hypertrophy0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0003712HP:0003712Skeletal muscle hypertrophy0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0003712HP:0003712Skeletal muscle hypertrophy0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0003712HP:0003712Skeletal muscle hypertrophy0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0003712HP:0003712Skeletal muscle hypertrophy0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0003712HP:0003712Skeletal muscle hypertrophy0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent105
HP:0003712HP:0003712Skeletal muscle hypertrophy0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1323
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent11
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAV3 CL E G H8591529OMIM:606072Rippling muscle disease.148
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent48
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0003712HP:0003712Skeletal muscle hypertrophy0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0CDCA7 CL E G H8387914628ORPHA:2268ICF syndrome4
HP:0003712HP:0003712Skeletal muscle hypertrophy0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0003712HP:0003712Skeletal muscle hypertrophy0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type11
HP:0003712HP:0003712Skeletal muscle hypertrophy0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophy8
HP:0003712HP:0003712Skeletal muscle hypertrophy0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 type16
HP:0003712HP:0003712Skeletal muscle hypertrophy0CLCN1 CL E G H11802019OMIM:160800Myotonia congenita, autosomal dominant133
HP:0003712HP:0003712Skeletal muscle hypertrophy0CLCN1 CL E G H11802019OMIM:255700Myotonia congenita, autosomal recessive133
HP:0003712HP:0003712Skeletal muscle hypertrophy0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0CPSF3 CL E G H516922326OMIM:619876
HP:0003712HP:0003712Skeletal muscle hypertrophy0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0003712HP:0003712Skeletal muscle hypertrophy0CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0003712HP:0003712Skeletal muscle hypertrophy0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0003712HP:0003712Skeletal muscle hypertrophy0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16108
HP:0003712HP:0003712Skeletal muscle hypertrophy0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003712HP:0003712Skeletal muscle hypertrophy0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0003712HP:0003712Skeletal muscle hypertrophy0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003712HP:0003712Skeletal muscle hypertrophy0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0003712HP:0003712Skeletal muscle hypertrophy0DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophy1496
HP:0003712HP:0003712Skeletal muscle hypertrophy0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003712HP:0003712Skeletal muscle hypertrophy0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0003712HP:0003712Skeletal muscle hypertrophy0DNMT3B CL E G H17892979ORPHA:2268ICF syndrome79
HP:0003712HP:0003712Skeletal muscle hypertrophy0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome79
HP:0003712HP:0003712Skeletal muscle hypertrophy0DPM3 CL E G H543443007ORPHA:263494DPM3-CDG9
HP:0003712HP:0003712Skeletal muscle hypertrophy0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesis121
HP:0003712HP:0003712Skeletal muscle hypertrophy0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidism121
HP:0003712HP:0003712Skeletal muscle hypertrophy0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesis11
HP:0003712HP:0003712Skeletal muscle hypertrophy0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0003712HP:0003712Skeletal muscle hypertrophy0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0003712HP:0003712Skeletal muscle hypertrophy0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003712HP:0003712Skeletal muscle hypertrophy0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0003712HP:0003712Skeletal muscle hypertrophy0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0003712HP:0003712Skeletal muscle hypertrophy0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0003712HP:0003712Skeletal muscle hypertrophy0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0003712HP:0003712Skeletal muscle hypertrophy0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0003712HP:0003712Skeletal muscle hypertrophy0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0003712HP:0003712Skeletal muscle hypertrophy0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0003712HP:0003712Skeletal muscle hypertrophy0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome68
HP:0003712HP:0003712Skeletal muscle hypertrophy0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndrome2
HP:0003712HP:0003712Skeletal muscle hypertrophy0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome2
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent157
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9157
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X184
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4184
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0003712HP:0003712Skeletal muscle hypertrophy0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent
HP:0003712HP:0003712Skeletal muscle hypertrophy0FOXE1 CL E G H23043806ORPHA:95713Athyreosis9
HP:0003712HP:0003712Skeletal muscle hypertrophy0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0003712HP:0003712Skeletal muscle hypertrophy0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0003712HP:0003712Skeletal muscle hypertrophy0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0003712HP:0003712Skeletal muscle hypertrophy0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0003712HP:0003712Skeletal muscle hypertrophy0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0003712HP:0003712Skeletal muscle hypertrophy0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0003712HP:0003712Skeletal muscle hypertrophy0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0003712HP:0003712Skeletal muscle hypertrophy0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent34
HP:0003712HP:0003712Skeletal muscle hypertrophy0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0003712HP:0003712Skeletal muscle hypertrophy0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0003712HP:0003712Skeletal muscle hypertrophy0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0003712HP:0003712Skeletal muscle hypertrophy0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0003712HP:0003712Skeletal muscle hypertrophy0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0003712HP:0003712Skeletal muscle hypertrophy0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0003712HP:0003712Skeletal muscle hypertrophy0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0003712HP:0003712Skeletal muscle hypertrophy0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0003712HP:0003712Skeletal muscle hypertrophy0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0003712HP:0003712Skeletal muscle hypertrophy0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0003712HP:0003712Skeletal muscle hypertrophy0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0003712HP:0003712Skeletal muscle hypertrophy0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0003712HP:0003712Skeletal muscle hypertrophy0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0HELLS CL E G H30704861ORPHA:2268ICF syndrome6
HP:0003712HP:0003712Skeletal muscle hypertrophy0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0003712HP:0003712Skeletal muscle hypertrophy0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0003712HP:0003712Skeletal muscle hypertrophy0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0003712HP:0003712Skeletal muscle hypertrophy0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0003712HP:0003712Skeletal muscle hypertrophy0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0003712HP:0003712Skeletal muscle hypertrophy0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0003712HP:0003712Skeletal muscle hypertrophy0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003712HP:0003712Skeletal muscle hypertrophy0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0003712HP:0003712Skeletal muscle hypertrophy0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0003712HP:0003712Skeletal muscle hypertrophy0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0003712HP:0003712Skeletal muscle hypertrophy0HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitus
HP:0003712HP:0003712Skeletal muscle hypertrophy0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0003712HP:0003712Skeletal muscle hypertrophy0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0003712HP:0003712Skeletal muscle hypertrophy0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0003712HP:0003712Skeletal muscle hypertrophy0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0003712HP:0003712Skeletal muscle hypertrophy0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0003712HP:0003712Skeletal muscle hypertrophy0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0003712HP:0003712Skeletal muscle hypertrophy0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0003712HP:0003712Skeletal muscle hypertrophy0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003712HP:0003712Skeletal muscle hypertrophy0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0003712HP:0003712Skeletal muscle hypertrophy0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0003712HP:0003712Skeletal muscle hypertrophy0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesis130
HP:0003712HP:0003712Skeletal muscle hypertrophy0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003712HP:0003712Skeletal muscle hypertrophy0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0003712HP:0003712Skeletal muscle hypertrophy0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0003712HP:0003712Skeletal muscle hypertrophy0KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitus127
HP:0003712HP:0003712Skeletal muscle hypertrophy0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0003712HP:0003712Skeletal muscle hypertrophy0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0003712HP:0003712Skeletal muscle hypertrophy0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0003712HP:0003712Skeletal muscle hypertrophy0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0003712HP:0003712Skeletal muscle hypertrophy0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0003712HP:0003712Skeletal muscle hypertrophy0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0003712HP:0003712Skeletal muscle hypertrophy0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003712HP:0003712Skeletal muscle hypertrophy0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0003712HP:0003712Skeletal muscle hypertrophy0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0003712HP:0003712Skeletal muscle hypertrophy0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0003712HP:0003712Skeletal muscle hypertrophy0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0003712HP:0003712Skeletal muscle hypertrophy0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0003712HP:0003712Skeletal muscle hypertrophy0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0003712HP:0003712Skeletal muscle hypertrophy0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0003712HP:0003712Skeletal muscle hypertrophy0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040281 - Very frequent645
HP:0003712HP:0003712Skeletal muscle hypertrophy0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040281 - Very frequent645
HP:0003712HP:0003712Skeletal muscle hypertrophy0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0003712HP:0003712Skeletal muscle hypertrophy0LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophy92
HP:0003712HP:0003712Skeletal muscle hypertrophy0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0003712HP:0003712Skeletal muscle hypertrophy0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0003712HP:0003712Skeletal muscle hypertrophy0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0003712HP:0003712Skeletal muscle hypertrophy0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0003712HP:0003712Skeletal muscle hypertrophy0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion2
HP:0003712HP:0003712Skeletal muscle hypertrophy0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0003712HP:0003712Skeletal muscle hypertrophy0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0003712HP:0003712Skeletal muscle hypertrophy0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0003712HP:0003712Skeletal muscle hypertrophy0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0003712HP:0003712Skeletal muscle hypertrophy0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003712HP:0003712Skeletal muscle hypertrophy0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0003712HP:0003712Skeletal muscle hypertrophy0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003712HP:0003712Skeletal muscle hypertrophy0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0003712HP:0003712Skeletal muscle hypertrophy0MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1BHP:0040282 - Frequent134
HP:0003712HP:0003712Skeletal muscle hypertrophy0MSTN CL E G H26604223OMIM:614160MUSCLE HYPERTROPHY; MSLHP34
HP:0003712HP:0003712Skeletal muscle hypertrophy0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0003712HP:0003712Skeletal muscle hypertrophy0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0003712HP:0003712Skeletal muscle hypertrophy0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0003712HP:0003712Skeletal muscle hypertrophy0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0003712HP:0003712Skeletal muscle hypertrophy0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0003712HP:0003712Skeletal muscle hypertrophy0NKX2-1 CL E G H708011825ORPHA:95713Athyreosis51
HP:0003712HP:0003712Skeletal muscle hypertrophy0NKX2-5 CL E G H14822488ORPHA:95713Athyreosis90
HP:0003712HP:0003712Skeletal muscle hypertrophy0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopia90
HP:0003712HP:0003712Skeletal muscle hypertrophy0PAX8 CL E G H78498622ORPHA:95713Athyreosis63
HP:0003712HP:0003712Skeletal muscle hypertrophy0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 263
HP:0003712HP:0003712Skeletal muscle hypertrophy0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopia63
HP:0003712HP:0003712Skeletal muscle hypertrophy0PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasia63
HP:0003712HP:0003712Skeletal muscle hypertrophy0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0003712HP:0003712Skeletal muscle hypertrophy0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003712HP:0003712Skeletal muscle hypertrophy0PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 116
HP:0003712HP:0003712Skeletal muscle hypertrophy0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0003712HP:0003712Skeletal muscle hypertrophy0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0003712HP:0003712Skeletal muscle hypertrophy0PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitus
HP:0003712HP:0003712Skeletal muscle hypertrophy0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0003712HP:0003712Skeletal muscle hypertrophy0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 4.19
HP:0003712HP:0003712Skeletal muscle hypertrophy0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0003712HP:0003712Skeletal muscle hypertrophy0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1A79
HP:0003712HP:0003712Skeletal muscle hypertrophy0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent180
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.180
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 833
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent18
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent213
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent221
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.221
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT2 CL E G H2995419743OMIM:613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2.221
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14221
HP:0003712HP:0003712Skeletal muscle hypertrophy0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0003712HP:0003712Skeletal muscle hypertrophy0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003712HP:0003712Skeletal muscle hypertrophy0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0003712HP:0003712Skeletal muscle hypertrophy0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0003712HP:0003712Skeletal muscle hypertrophy0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent42
HP:0003712HP:0003712Skeletal muscle hypertrophy0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040281 - Very frequent42
HP:0003712HP:0003712Skeletal muscle hypertrophy0PQBP1 CL E G H100849330ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall type28
HP:0003712HP:0003712Skeletal muscle hypertrophy0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital235
HP:0003712HP:0003712Skeletal muscle hypertrophy0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0003712HP:0003712Skeletal muscle hypertrophy0PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5HP:0040281 - Very frequent49
HP:0003712HP:0003712Skeletal muscle hypertrophy0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0003712HP:0003712Skeletal muscle hypertrophy0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0003712HP:0003712Skeletal muscle hypertrophy0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0003712HP:0003712Skeletal muscle hypertrophy0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndrome88
HP:0003712HP:0003712Skeletal muscle hypertrophy0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0003712HP:0003712Skeletal muscle hypertrophy0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0003712HP:0003712Skeletal muscle hypertrophy0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0003712HP:0003712Skeletal muscle hypertrophy0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0003712HP:0003712Skeletal muscle hypertrophy0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003712HP:0003712Skeletal muscle hypertrophy0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H632910591ORPHA:99736Acetazolamide-responsive myotoniaHP:0040283 - Occasional263
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040283 - Occasional263
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H632910591ORPHA:99735Myotonia permanensHP:0040283 - Occasional263
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated.263
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H632910591OMIM:168300Paramyotonia congenita of von eulenburg.263
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von Eulenburg263
HP:0003712HP:0003712Skeletal muscle hypertrophy0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0003712HP:0003712Skeletal muscle hypertrophy0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0003712HP:0003712Skeletal muscle hypertrophy0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0003712HP:0003712Skeletal muscle hypertrophy0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0003712HP:0003712Skeletal muscle hypertrophy0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0003712HP:0003712Skeletal muscle hypertrophy0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0003712HP:0003712Skeletal muscle hypertrophy0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0003712HP:0003712Skeletal muscle hypertrophy0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4113
HP:0003712HP:0003712Skeletal muscle hypertrophy0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F223
HP:0003712HP:0003712Skeletal muscle hypertrophy0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0003712HP:0003712Skeletal muscle hypertrophy0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0003712HP:0003712Skeletal muscle hypertrophy0SHOX CL E G H647310853ORPHA:314795SHOX-related short statureHP:0040281 - Very frequent66
HP:0003712HP:0003712Skeletal muscle hypertrophy0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0003712HP:0003712Skeletal muscle hypertrophy0SLC26A4 CL E G H51728818ORPHA:95713Athyreosis274
HP:0003712HP:0003712Skeletal muscle hypertrophy0SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasia274
HP:0003712HP:0003712Skeletal muscle hypertrophy0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesis59
HP:0003712HP:0003712Skeletal muscle hypertrophy0SLC5A5 CL E G H652811040OMIM:274400Thyroid hormonogenesis, genetic defect in, 159
HP:0003712HP:0003712Skeletal muscle hypertrophy0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0003712HP:0003712Skeletal muscle hypertrophy0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040281 - Very frequent504
HP:0003712HP:0003712Skeletal muscle hypertrophy0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4617
HP:0003712HP:0003712Skeletal muscle hypertrophy0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0003712HP:0003712Skeletal muscle hypertrophy0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0003712HP:0003712Skeletal muscle hypertrophy0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism3
HP:0003712HP:0003712Skeletal muscle hypertrophy0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0003712HP:0003712Skeletal muscle hypertrophy0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0003712HP:0003712Skeletal muscle hypertrophy0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0003712HP:0003712Skeletal muscle hypertrophy0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesis23
HP:0003712HP:0003712Skeletal muscle hypertrophy0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0003712HP:0003712Skeletal muscle hypertrophy0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0003712HP:0003712Skeletal muscle hypertrophy0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0003712HP:0003712Skeletal muscle hypertrophy0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0003712HP:0003712Skeletal muscle hypertrophy0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesis155
HP:0003712HP:0003712Skeletal muscle hypertrophy0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 69
HP:0003712HP:0003712Skeletal muscle hypertrophy0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesis92
HP:0003712HP:0003712Skeletal muscle hypertrophy0TRAF3IP2 CL E G H107581343OMIM:615527Candidiasis, familial, 84
HP:0003712HP:0003712Skeletal muscle hypertrophy0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0003712HP:0003712Skeletal muscle hypertrophy0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0003712HP:0003712Skeletal muscle hypertrophy0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 49
HP:0003712HP:0003712Skeletal muscle hypertrophy0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0003712HP:0003712Skeletal muscle hypertrophy0TSHR CL E G H725312373ORPHA:95713Athyreosis97
HP:0003712HP:0003712Skeletal muscle hypertrophy0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutations97
HP:0003712HP:0003712Skeletal muscle hypertrophy0TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasia97
HP:0003712HP:0003712Skeletal muscle hypertrophy0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0003712HP:0003712Skeletal muscle hypertrophy0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003712HP:0003712Skeletal muscle hypertrophy0TTN CL E G H727312403OMIM:611705Salih myopathy7128
HP:0003712HP:0003712Skeletal muscle hypertrophy0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0003712HP:0003712Skeletal muscle hypertrophy0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0003712HP:0003712Skeletal muscle hypertrophy0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0003712HP:0003712Skeletal muscle hypertrophy0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0003712HP:0003712Skeletal muscle hypertrophy0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0003712HP:0003712Skeletal muscle hypertrophy0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0003712HP:0003712Skeletal muscle hypertrophy0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0003712HP:0003712Skeletal muscle hypertrophy0ZBTB24 CL E G H984121143ORPHA:2268ICF syndrome9
HP:0003712HP:0003712Skeletal muscle hypertrophy0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0003712HP:0003712Skeletal muscle hypertrophy0ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitus30
HP:0003712HP:0012895Scapular muscle hypertrophy1 CL E G H
HP:0003712HP:0012894Paraspinal muscle hypertrophy1 CL E G H
HP:0003712HP:0000158Macroglossia1ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent245
HP:0003712HP:0000158Macroglossia1ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040281 - Very frequent72
HP:0003712HP:0000158Macroglossia1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0003712HP:0000158Macroglossia1AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0003712HP:0000158Macroglossia1AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040282 - Frequent76
HP:0003712HP:0000158Macroglossia1AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0003712HP:0000158Macroglossia1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0003712HP:0000158Macroglossia1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0003712HP:0000158Macroglossia1ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040284 - Very rare37
HP:0003712HP:0000158Macroglossia1ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040283 - Occasional66
HP:0003712HP:0000158Macroglossia1ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0003712HP:0000158Macroglossia1AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3304
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1125
HP:0003712HP:0000158Macroglossia1ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 2.88
HP:0003712HP:0000158Macroglossia1ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0003712HP:0000158Macroglossia1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0003712HP:0000158Macroglossia1ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2.5
HP:0003712HP:0000158Macroglossia1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040282 - Frequent169
HP:0003712HP:0000158Macroglossia1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0003712HP:0000158Macroglossia1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0003712HP:0000158Macroglossia1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0003712HP:0000158Macroglossia1BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0003712HP:0000158Macroglossia1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1323
HP:0003712HP:0000158Macroglossia1CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0003712HP:0000158Macroglossia1CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0003712HP:0000158Macroglossia1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0003712HP:0000158Macroglossia1CDCA7 CL E G H8387914628ORPHA:2268ICF syndromeHP:0040283 - Occasional4
HP:0003712HP:0000158Macroglossia1CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type11
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophy8
HP:0003712HP:0012893Neck muscle hypertrophy1CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CLCN1 CL E G H11802019OMIM:255700Myotonia congenita, autosomal recessive.133
HP:0003712HP:0000158Macroglossia1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1CPSF3 CL E G H516922326OMIM:619876
HP:0003712HP:0000158Macroglossia1CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0003712HP:0000158Macroglossia1CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0003712HP:0000158Macroglossia1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16108
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003712HP:0000158Macroglossia1DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0003712HP:0000158Macroglossia1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophy1496
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003712HP:0000158Macroglossia1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0003712HP:0000158Macroglossia1DNMT3B CL E G H17892979ORPHA:2268ICF syndromeHP:0040283 - Occasional79
HP:0003712HP:0000158Macroglossia1DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1DPM3 CL E G H543443007ORPHA:263494DPM3-CDG9
HP:0003712HP:0000158Macroglossia1DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional121
HP:0003712HP:0000158Macroglossia1DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidismHP:0040283 - Occasional121
HP:0003712HP:0000158Macroglossia1DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional11
HP:0003712HP:0000158Macroglossia1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003712HP:0000158Macroglossia1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0003712HP:0000158Macroglossia1EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0003712HP:0000158Macroglossia1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0003712HP:0000158Macroglossia1ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040282 - Frequent18
HP:0003712HP:0000158Macroglossia1ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040282 - Frequent18
HP:0003712HP:0000158Macroglossia1FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0003712HP:0000158Macroglossia1FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0003712HP:0000158Macroglossia1FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0003712HP:0000158Macroglossia1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent157
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9157
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0003712HP:0000158Macroglossia1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0003712HP:0000158Macroglossia1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X184
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4184
HP:0003712HP:0000158Macroglossia1FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0003712HP:0000158Macroglossia1FOXE1 CL E G H23043806ORPHA:95713AthyreosisHP:0040281 - Very frequent9
HP:0003712HP:0000158Macroglossia1FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040282 - Frequent177
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0003712HP:0000158Macroglossia1FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0003712HP:0000158Macroglossia1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040282 - Frequent407
HP:0003712HP:0000158Macroglossia1GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0003712HP:0000158Macroglossia1GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0003712HP:0000158Macroglossia1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0003712HP:0000158Macroglossia1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent34
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0003712HP:0000158Macroglossia1GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0003712HP:0000158Macroglossia1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0003712HP:0000158Macroglossia1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0003712HP:0000158Macroglossia1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0003712HP:0000158Macroglossia1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0003712HP:0000158Macroglossia1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0003712HP:0000158Macroglossia1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0003712HP:0000158Macroglossia1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0003712HP:0000158Macroglossia1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0003712HP:0000158Macroglossia1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0003712HP:0000158Macroglossia1GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0003712HP:0000158Macroglossia1H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0003712HP:0000158Macroglossia1HELLS CL E G H30704861ORPHA:2268ICF syndromeHP:0040283 - Occasional6
HP:0003712HP:0000158Macroglossia1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0003712HP:0000158Macroglossia1HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0003712HP:0000158Macroglossia1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0003712HP:0000158Macroglossia1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0003712HP:0000158Macroglossia1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0003712HP:0000158Macroglossia1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0003712HP:0000158Macroglossia1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003712HP:0000158Macroglossia1HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent
HP:0003712HP:0000158Macroglossia1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040282 - Frequent86
HP:0003712HP:0000158Macroglossia1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0003712HP:0000158Macroglossia1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0003712HP:0000158Macroglossia1IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040282 - Frequent115
HP:0003712HP:0000158Macroglossia1IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0003712HP:0000158Macroglossia1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0003712HP:0000158Macroglossia1IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0003712HP:0000158Macroglossia1IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003712HP:0000158Macroglossia1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0003712HP:0000158Macroglossia1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0003712HP:0000158Macroglossia1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0003712HP:0000158Macroglossia1IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional130
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0003712HP:0000158Macroglossia1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0003712HP:0000158Macroglossia1KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent127
HP:0003712HP:0000158Macroglossia1KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0003712HP:0000158Macroglossia1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0003712HP:0000158Macroglossia1KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0003712HP:0000158Macroglossia1KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0003712HP:0000158Macroglossia1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0003712HP:0000158Macroglossia1LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040282 - Frequent411
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0003712HP:0000158Macroglossia1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0003712HP:0000158Macroglossia1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0003712HP:0000158Macroglossia1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0003712HP:0040265Upper limb muscle hypertrophy1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040282 - Frequent645
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophy92
HP:0003712HP:0000158Macroglossia1MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0003712HP:0000158Macroglossia1MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0003712HP:0000158Macroglossia1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0003712HP:0000158Macroglossia1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion2
HP:0003712HP:0000158Macroglossia1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0003712HP:0000158Macroglossia1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040282 - Frequent74
HP:0003712HP:0000158Macroglossia1MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects.74
HP:0003712HP:0000158Macroglossia1MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0003712HP:0000158Macroglossia1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0003712HP:0000158Macroglossia1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003712HP:0000158Macroglossia1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0003712HP:0000158Macroglossia1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0003712HP:0000158Macroglossia1NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0003712HP:0000158Macroglossia1NKX2-1 CL E G H708011825ORPHA:95713AthyreosisHP:0040281 - Very frequent51
HP:0003712HP:0000158Macroglossia1NKX2-5 CL E G H14822488ORPHA:95713AthyreosisHP:0040281 - Very frequent90
HP:0003712HP:0000158Macroglossia1NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent90
HP:0003712HP:0000158Macroglossia1PAX8 CL E G H78498622ORPHA:95713AthyreosisHP:0040281 - Very frequent63
HP:0003712HP:0000158Macroglossia1PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0003712HP:0000158Macroglossia1PAX8 CL E G H78498622ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent63
HP:0003712HP:0000158Macroglossia1PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent63
HP:0003712HP:0000158Macroglossia1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0003712HP:0000158Macroglossia1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003712HP:0000158Macroglossia1PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 11.6
HP:0003712HP:0000158Macroglossia1PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome.
HP:0003712HP:0000158Macroglossia1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0003712HP:0000158Macroglossia1PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent
HP:0003712HP:0040265Upper limb muscle hypertrophy1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1A79
HP:0003712HP:0000158Macroglossia1POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent180
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3180
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 833
HP:0003712HP:0000158Macroglossia1POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent18
HP:0003712HP:0000158Macroglossia1POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent213
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0003712HP:0000158Macroglossia1POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0003712HP:0000158Macroglossia1POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent221
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0003712HP:0000158Macroglossia1POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.221
HP:0003712HP:0000158Macroglossia1POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14221
HP:0003712HP:0000158Macroglossia1POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2HP:0040283 - Occasional6
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003712HP:0000158Macroglossia1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0003712HP:0000158Macroglossia1POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 1.36
HP:0003712HP:0000158Macroglossia1PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0003712HP:0000158Macroglossia1PQBP1 CL E G H100849330ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall typeHP:0040281 - Very frequent28
HP:0003712HP:0000158Macroglossia1PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenitalHP:0040283 - Occasional235
HP:0003712HP:0000158Macroglossia1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0003712HP:0000158Macroglossia1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0003712HP:0000158Macroglossia1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0003712HP:0000158Macroglossia1PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos diseaseHP:0040281 - Very frequent948
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040282 - Frequent88
HP:0003712HP:0000158Macroglossia1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0003712HP:0000158Macroglossia1RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0003712HP:0000158Macroglossia1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0003712HP:0000158Macroglossia1RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0003712HP:0000158Macroglossia1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0003712HP:0003720Generalized muscle hypertrophy1SCN4A CL E G H632910591ORPHA:99735Myotonia permanensHP:0040283 - Occasional263
HP:0003712HP:0012892Facial muscle hypertrophy1SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040282 - Frequent263
HP:0003712HP:0000158Macroglossia1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0003712HP:0000158Macroglossia1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0003712HP:0000158Macroglossia1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0003712HP:0000158Macroglossia1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0003712HP:0000158Macroglossia1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0003712HP:0000158Macroglossia1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4113
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F223
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0003712HP:0000158Macroglossia1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0003712HP:0000158Macroglossia1SLC26A4 CL E G H51728818ORPHA:95713AthyreosisHP:0040281 - Very frequent274
HP:0003712HP:0000158Macroglossia1SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent274
HP:0003712HP:0000158Macroglossia1SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional59
HP:0003712HP:0000158Macroglossia1SLC5A5 CL E G H652811040OMIM:274400Thyroid hormonogenesis, genetic defect in, 1.59
HP:0003712HP:0003720Generalized muscle hypertrophy1SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0003712HP:0000158Macroglossia1SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4.617
HP:0003712HP:0000158Macroglossia1SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0003712HP:0000158Macroglossia1SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism.3
HP:0003712HP:0000158Macroglossia1SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0003712HP:0000158Macroglossia1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040282 - Frequent14
HP:0003712HP:0000158Macroglossia1SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20HP:0040283 - Occasional14
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040281 - Very frequent23
HP:0003712HP:0000158Macroglossia1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0003712HP:0000158Macroglossia1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040283 - Occasional13
HP:0003712HP:0000158Macroglossia1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0003712HP:0000158Macroglossia1TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional155
HP:0003712HP:0000158Macroglossia1THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 6.9
HP:0003712HP:0000158Macroglossia1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional92
HP:0003712HP:0000158Macroglossia1TRAF3IP2 CL E G H107581343OMIM:615527Candidiasis, familial, 8.4
HP:0003712HP:0000158Macroglossia1TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional101
HP:0003712HP:0000158Macroglossia1TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional
HP:0003712HP:0000158Macroglossia1TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0003712HP:0000158Macroglossia1TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0003712HP:0000158Macroglossia1TSHR CL E G H725312373ORPHA:95713AthyreosisHP:0040281 - Very frequent97
HP:0003712HP:0000158Macroglossia1TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutationsHP:0040283 - Occasional97
HP:0003712HP:0000158Macroglossia1TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent97
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1TTN CL E G H727312403OMIM:611705Salih myopathy7128
HP:0003712HP:0000158Macroglossia1UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0003712HP:0000158Macroglossia1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0003712HP:0000158Macroglossia1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040282 - Frequent1
HP:0003712HP:0000158Macroglossia1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0003712HP:0000158Macroglossia1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0003712HP:0000158Macroglossia1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0003712HP:0000158Macroglossia1ZBTB24 CL E G H984121143ORPHA:2268ICF syndromeHP:0040283 - Occasional9
HP:0003712HP:0003720Generalized muscle hypertrophy1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0003712HP:0000158Macroglossia1ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent30
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2 CL E G H
HP:0003712HP:0100875Hemimacroglossia2 CL E G H
HP:0003712HP:0008981Calf muscle hypertrophy2ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040283 - Occasional304
HP:0003712HP:0008981Calf muscle hypertrophy2ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0003712HP:0008981Calf muscle hypertrophy2ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L.304
HP:0003712HP:0008981Calf muscle hypertrophy2AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0003712HP:0008981Calf muscle hypertrophy2BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional99
HP:0003712HP:0008981Calf muscle hypertrophy2CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0003712HP:0008981Calf muscle hypertrophy2CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type.148
HP:0003712HP:0008981Calf muscle hypertrophy2CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela typeHP:0040283 - Occasional11
HP:0003712HP:0008981Calf muscle hypertrophy2CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophyHP:0040281 - Very frequent8
HP:0003712HP:0008981Calf muscle hypertrophy2CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.
HP:0003712HP:0008981Calf muscle hypertrophy2DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040282 - Frequent108
HP:0003712HP:0008981Calf muscle hypertrophy2DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003712HP:0008981Calf muscle hypertrophy2DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0003712HP:0008981Calf muscle hypertrophy2DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent1496
HP:0003712HP:0008981Calf muscle hypertrophy2DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003712HP:0008981Calf muscle hypertrophy2DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional167
HP:0003712HP:0008981Calf muscle hypertrophy2DPM3 CL E G H543443007ORPHA:263494DPM3-CDGHP:0040282 - Frequent9
HP:0003712HP:0008981Calf muscle hypertrophy2DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0003712HP:0008981Calf muscle hypertrophy2DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040283 - Occasional600
HP:0003712HP:0008981Calf muscle hypertrophy2FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent157
HP:0003712HP:0008981Calf muscle hypertrophy2FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040282 - Frequent157
HP:0003712HP:0008981Calf muscle hypertrophy2FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0003712HP:0003733Thigh hypertrophy2FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0003712HP:0008981Calf muscle hypertrophy2FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0003712HP:0003733Thigh hypertrophy2FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0003712HP:0008981Calf muscle hypertrophy2FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X184
HP:0003712HP:0008981Calf muscle hypertrophy2FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0003712HP:0008981Calf muscle hypertrophy2FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0003712HP:0008981Calf muscle hypertrophy2GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent34
HP:0003712HP:0008981Calf muscle hypertrophy2KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0003712HP:0008981Calf muscle hypertrophy2LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003712HP:0008981Calf muscle hypertrophy2LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent136
HP:0003712HP:0008981Calf muscle hypertrophy2LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0003712HP:0030284Triangular tongue2LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0003712HP:0008981Calf muscle hypertrophy2LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0003712HP:0008981Calf muscle hypertrophy2LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040282 - Frequent645
HP:0003712HP:0008981Calf muscle hypertrophy2LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent92
HP:0003712HP:0008981Calf muscle hypertrophy2MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0003712HP:0008981Calf muscle hypertrophy2MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003712HP:0008981Calf muscle hypertrophy2MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional7
HP:0003712HP:0008981Calf muscle hypertrophy2MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional19
HP:0003712HP:0008981Calf muscle hypertrophy2MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0003712HP:0008981Calf muscle hypertrophy2PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0003712HP:0008981Calf muscle hypertrophy2PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophyHP:0040281 - Very frequent19
HP:0003712HP:0008981Calf muscle hypertrophy2PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040283 - Occasional79
HP:0003712HP:0008981Calf muscle hypertrophy2POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3180
HP:0003712HP:0008981Calf muscle hypertrophy2POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8.33
HP:0003712HP:0008981Calf muscle hypertrophy2POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent213
HP:0003712HP:0008981Calf muscle hypertrophy2POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0003712HP:0008981Calf muscle hypertrophy2POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040282 - Frequent213
HP:0003712HP:0003733Thigh hypertrophy2POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040282 - Frequent213
HP:0003712HP:0008981Calf muscle hypertrophy2POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent221
HP:0003712HP:0008981Calf muscle hypertrophy2POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040283 - Occasional221
HP:0003712HP:0008981Calf muscle hypertrophy2POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003712HP:0008981Calf muscle hypertrophy2RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional1200
HP:0003712HP:0008981Calf muscle hypertrophy2SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D.132
HP:0003712HP:0008981Calf muscle hypertrophy2SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0003712HP:0008981Calf muscle hypertrophy2SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0003712HP:0008981Calf muscle hypertrophy2SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0003712HP:0008981Calf muscle hypertrophy2SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0003712HP:0008981Calf muscle hypertrophy2SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0003712HP:0008981Calf muscle hypertrophy2TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0003712HP:0008981Calf muscle hypertrophy2TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040283 - Occasional7128
HP:0003712HP:0008981Calf muscle hypertrophy2TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003712HP:0008981Calf muscle hypertrophy2TTN CL E G H727312403OMIM:611705Salih myopathy.7128
HP:0003712HP:0008981Calf muscle hypertrophy2UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111


Genes (212) :ABCC8 ACTB AFF4 AGA AGPAT2 AIP AKT1 ALG3 ALG6 ALG8 AMPD2 ANO5 AR ARCN1 ARID1A ARSB ATP6V1B2 ATRX BAZ1B BCL7B BIN1 BSCL2 BUD23 CAPN3 CAV1 CAV3 CAVIN1 CCDC47 CDCA7 CDKN1C CHCHD10 CIDEC CIZ1 CLCN1 CLIP2 CPSF3 CRPPA CUL4B DAG1 DHX16 DLK1 DMD DNAJC30 DNM2 DNMT3B DPM3 DUOX2 DUOXA2 DVL1 DYSF EHMT1 EIF4H ELN ERLIN2 FDX2 FHL1 FIBP FKBP6 FKRP FKTN FOS FOXE1 FOXG1 FRG1 FUCA1 GAA GATA1 GLB1 GMPPB GNE GNPTAB GNS GPC3 GPC4 GPR101 GTF2I GTF2IRD1 GTF2IRD2 GUSB H19-ICR HELLS HESX1 HEXB HNRNPK HRAS HS2ST1 HSPG2 HYMAI IDS IDUA IFT140 IGF2 IL6ST INPP5E INSR IPO8 IYD JAG2 KCNA1 KCNH1 KCNJ11 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KLLN LAMA2 LARGE1 LHX3 LHX4 LIMK1 LIMS2 LIPE LMNA LTBP4 MAN2B1 MAN2C1 MAP3K20 MBD5 MED13L MEG3 METTL27 MICU1 MLXIPL MPZ MSTN MTMR14 MYF6 MYH7 NCF1 NEK9 NKX2-1 NKX2-5 PAX8 PEX1 PIGS PIGW PIK3C2A PIK3CA PLAGL1 PLEC PLIN1 PMP22 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POP1 POPDC3 POU1F1 PPARG PQBP1 PRKAG2 PROP1 PRPS1 PSMB8 PTEN RASA1 RFC2 RMRP RNF125 ROR2 RTL1 RYR1 SCN4A SDHB SDHC SDHD SEC23B SETBP1 SGCA SGCB SGCD SGCG SHOX SLC25A1 SLC26A4 SLC5A5 SMAD4 SMARCA4 SMARCB1 SMN1 SNIP1 SNRPN SNX14 SRY STT3A STX1A TBCK TBL2 TCAP TG THRA TMEM270 TPO TRAF3IP2 TRMU TRNE TSHB TSHR TTN UBE3A UNC45B USF3 VPS33A VPS37D WNT5A ZBTB24 ZEB2 ZFP57

Diseases (208) :ORPHA:99886 ORPHA:79107 ORPHA:444077 ORPHA:93 OMIM:208400 ORPHA:528 ORPHA:963 ORPHA:201 ORPHA:79321 ORPHA:79320 ORPHA:79325 OMIM:615809 ORPHA:206549 OMIM:613319 OMIM:611307 OMIM:313200 OMIM:617164 OMIM:614607 OMIM:253200 ORPHA:3473 OMIM:616455 ORPHA:847 OMIM:301040 OMIM:309580 ORPHA:904 ORPHA:169189 ORPHA:267 OMIM:614321 OMIM:606072 OMIM:613327 OMIM:618268 ORPHA:2268 OMIM:130650 OMIM:615048 ORPHA:435651 ORPHA:420492 OMIM:160800 OMIM:255700 OMIM:619876 ORPHA:352479 OMIM:616052 OMIM:300354 ORPHA:280333 OMIM:618733 ORPHA:254528 ORPHA:96334 OMIM:310200 ORPHA:98896 ORPHA:206546 OMIM:242860 ORPHA:263494 ORPHA:95716 ORPHA:226316 OMIM:180700 ORPHA:268 ORPHA:45448 OMIM:610253 ORPHA:96147 ORPHA:209951 ORPHA:280384 OMIM:251900 OMIM:300696 OMIM:300280 ORPHA:500095 OMIM:617107 ORPHA:370959 ORPHA:370968 ORPHA:34515 OMIM:606612 OMIM:607155 OMIM:611615 OMIM:253800 OMIM:611588 ORPHA:95713 ORPHA:261144 OMIM:158900 OMIM:230000 ORPHA:308552 OMIM:232300 OMIM:190685 ORPHA:79255 OMIM:269921 OMIM:252500 OMIM:252940 ORPHA:373 OMIM:312870 OMIM:253220 ORPHA:226307 OMIM:268800 ORPHA:352665 ORPHA:453504 OMIM:218040 ORPHA:3071 OMIM:619194 ORPHA:800 OMIM:255800 ORPHA:96191 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 ORPHA:93473 OMIM:266920 OMIM:618523 OMIM:213300 ORPHA:769 OMIM:619472 OMIM:619566 ORPHA:37612 OMIM:618729 ORPHA:258 OMIM:618138 OMIM:608840 OMIM:616827 ORPHA:435660 ORPHA:79474 ORPHA:280365 ORPHA:2348 OMIM:151660 OMIM:248500 ORPHA:309288 ORPHA:309282 OMIM:619775 OMIM:617760 OMIM:156200 ORPHA:369891 OMIM:616789 OMIM:615673 ORPHA:101082 OMIM:614160 OMIM:255160 OMIM:617022 ORPHA:95712 OMIM:218700 ORPHA:95720 OMIM:214100 OMIM:618143 OMIM:616025 OMIM:618440 ORPHA:254361 OMIM:613877 ORPHA:280356 ORPHA:101081 ORPHA:3455 OMIM:613157 OMIM:618135 OMIM:613155 ORPHA:86812 OMIM:613150 OMIM:613156 OMIM:613158 ORPHA:206559 OMIM:617396 OMIM:618848 OMIM:613038 ORPHA:79083 ORPHA:93947 OMIM:261740 ORPHA:99014 OMIM:256040 ORPHA:65285 ORPHA:90307 OMIM:607095 OMIM:616260 OMIM:268310 ORPHA:99736 ORPHA:682 ORPHA:99735 OMIM:608390 OMIM:168300 ORPHA:684 OMIM:269150 ORPHA:798 OMIM:608099 ORPHA:119 OMIM:601287 ORPHA:353 OMIM:127300 ORPHA:314795 OMIM:618197 OMIM:274400 OMIM:139210 ORPHA:2588 OMIM:614609 OMIM:614608 OMIM:271150 OMIM:614501 OMIM:105830 ORPHA:397709 OMIM:616354 ORPHA:1772 OMIM:619714 OMIM:616900 ORPHA:488632 OMIM:601954 OMIM:614450 OMIM:615527 ORPHA:254864 OMIM:275100 ORPHA:90674 ORPHA:90673 ORPHA:178464 OMIM:603689 OMIM:611705 OMIM:619178 ORPHA:505248 OMIM:617303 OMIM:235730
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.