Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle tone (HP:0003808)help
Parent Node:
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Hypotonia (HP:0001252)help
..Starting node
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Generalized hypotonia (HP:0001290)help
Term ID: 1290
Name: Generalized hypotonia
Synonym: Generalised decreased muscle tone; Generalised hypotonia; Generalised muscular hypotonia; Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalised; Hypotonia, generalized
Definition: Generalized muscular hypotonia (abnormally low muscle tone).
Comments:
Reference: HP:0001290
Genes and Diseases:
 
       Child Nodes:
........expandGeneralized hypotonia due to defect at the neuromuscular junction (HP:0003397) help
........expandEpisodic generalized hypotonia (HP:0006852) help

 Sister Nodes: 
..expandAppendicular hypotonia (HP:0012389) help
..expandAxial hypotonia (HP:0008936) help
..expandFacial hypotonia (HP:0000297) help
..expandFrog-leg posture (HP:0031139) help
..expandInfantile muscular hypotonia (HP:0008947) help
..expandNeonatal hypotonia (HP:0001319) help
..expandOral motor hypotonia (HP:0030190) help
..expandSevere muscular hypotonia (HP:0006829) 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:0001290HP:0001290Generalized hypotonia0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0001290HP:0001290Generalized hypotonia0ACACA CL E G H3184OMIM:613933Acetyl-CoA carboxylase deficiency.
HP:0001290HP:0001290Generalized hypotonia0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0001290HP:0001290Generalized hypotonia0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0001290HP:0001290Generalized hypotonia0ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of.197
HP:0001290HP:0001290Generalized hypotonia0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0001290HP:0001290Generalized hypotonia0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0001290HP:0001290Generalized hypotonia0ACAT2 CL E G H3994OMIM:614055Acetyl-Coa acetyltransferase-2 deficiency.
HP:0001290HP:0001290Generalized hypotonia0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0001290HP:0001290Generalized hypotonia0ACTA1 CL E G H58129ORPHA:97244Rigid spine syndromeHP:0040281 - Very frequent96
HP:0001290HP:0001290Generalized hypotonia0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0001290HP:0001290Generalized hypotonia0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001290HP:0001290Generalized hypotonia0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0001290HP:0001290Generalized hypotonia0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0001290HP:0001290Generalized hypotonia0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61.
HP:0001290HP:0001290Generalized hypotonia0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0001290HP:0001290Generalized hypotonia0ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 8.2
HP:0001290HP:0001290Generalized hypotonia0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0001290HP:0001290Generalized hypotonia0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0001290HP:0001290Generalized hypotonia0ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiencyHP:0040281 - Very frequent118
HP:0001290HP:0001290Generalized hypotonia0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0001290HP:0001290Generalized hypotonia0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0001290HP:0001290Generalized hypotonia0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040281 - Very frequent60
HP:0001290HP:0001290Generalized hypotonia0ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic.62
HP:0001290HP:0001290Generalized hypotonia0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0001290HP:0001290Generalized hypotonia0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0001290HP:0001290Generalized hypotonia0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0001290HP:0001290Generalized hypotonia0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0001290HP:0001290Generalized hypotonia0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0001290HP:0001290Generalized hypotonia0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0001290HP:0001290Generalized hypotonia0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0001290HP:0001290Generalized hypotonia0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040282 - Frequent96
HP:0001290HP:0001290Generalized hypotonia0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent12
HP:0001290HP:0001290Generalized hypotonia0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0001290HP:0001290Generalized hypotonia0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent46
HP:0001290HP:0001290Generalized hypotonia0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14HP:0040283 - Occasional46
HP:0001290HP:0001290Generalized hypotonia0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0001290HP:0001290Generalized hypotonia0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0001290HP:0001290Generalized hypotonia0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0001290HP:0001290Generalized hypotonia0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosisHP:0040284 - Very rare2
HP:0001290HP:0001290Generalized hypotonia0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0001290HP:0001290Generalized hypotonia0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0001290HP:0001290Generalized hypotonia0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0001290HP:0001290Generalized hypotonia0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0001290HP:0001290Generalized hypotonia0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0001290HP:0001290Generalized hypotonia0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0001290HP:0001290Generalized hypotonia0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent7
HP:0001290HP:0001290Generalized hypotonia0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0001290HP:0001290Generalized hypotonia0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040283 - Occasional3179
HP:0001290HP:0001290Generalized hypotonia0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0001290HP:0001290Generalized hypotonia0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0001290HP:0001290Generalized hypotonia0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 6.25
HP:0001290HP:0001290Generalized hypotonia0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0001290HP:0001290Generalized hypotonia0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0001290HP:0001290Generalized hypotonia0ARV1 CL E G H6480129561OMIM:617020Epileptic encephalopathy, early infantile, 38.3
HP:0001290HP:0001290Generalized hypotonia0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001290HP:0001290Generalized hypotonia0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0001290HP:0001290Generalized hypotonia0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 2.2
HP:0001290HP:0001290Generalized hypotonia0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001290HP:0001290Generalized hypotonia0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman typeHP:0040282 - Frequent72
HP:0001290HP:0001290Generalized hypotonia0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency.4
HP:0001290HP:0001290Generalized hypotonia0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent239
HP:0001290HP:0001290Generalized hypotonia0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0001290HP:0001290Generalized hypotonia0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent150
HP:0001290HP:0001290Generalized hypotonia0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040284 - Very rare150
HP:0001290HP:0001290Generalized hypotonia0ATP5F1A CL E G H498823OMIM:616045Combined oxidative phosphorylation deficiency 22.
HP:0001290HP:0001290Generalized hypotonia0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0001290HP:0001290Generalized hypotonia0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0001290HP:0001290Generalized hypotonia0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0001290HP:0001290Generalized hypotonia0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001290HP:0001290Generalized hypotonia0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2HP:0040283 - Occasional5
HP:0001290HP:0001290Generalized hypotonia0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0001290HP:0001290Generalized hypotonia0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0001290HP:0001290Generalized hypotonia0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0001290HP:0001290Generalized hypotonia0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040283 - Occasional9
HP:0001290HP:0001290Generalized hypotonia0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0001290HP:0001290Generalized hypotonia0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0001290HP:0001290Generalized hypotonia0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0001290HP:0001290Generalized hypotonia0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0001290HP:0001290Generalized hypotonia0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0001290HP:0001290Generalized hypotonia0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0001290HP:0001290Generalized hypotonia0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0001290HP:0001290Generalized hypotonia0B4GALT1 CL E G H2683924OMIM:607091Congenital disorder of glycosylation, type IID.85
HP:0001290HP:0001290Generalized hypotonia0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0001290HP:0001290Generalized hypotonia0B9D1 CL E G H2707724123OMIM:617120Joubert syndrome 27.28
HP:0001290HP:0001290Generalized hypotonia0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0001290HP:0001290Generalized hypotonia0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0001290HP:0001290Generalized hypotonia0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0001290HP:0001290Generalized hypotonia0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0001290HP:0001290Generalized hypotonia0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0001290HP:0001290Generalized hypotonia0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001290HP:0001290Generalized hypotonia0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0001290HP:0001290Generalized hypotonia0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0001290HP:0001290Generalized hypotonia0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0001290HP:0001290Generalized hypotonia0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0001290HP:0001290Generalized hypotonia0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0001290HP:0001290Generalized hypotonia0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0001290HP:0001290Generalized hypotonia0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0001290HP:0001290Generalized hypotonia0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0001290HP:0001290Generalized hypotonia0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0001290HP:0001290Generalized hypotonia0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0001290HP:0001290Generalized hypotonia0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0001290HP:0001290Generalized hypotonia0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0001290HP:0001290Generalized hypotonia0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0001290HP:0001290Generalized hypotonia0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 66.2
HP:0001290HP:0001290Generalized hypotonia0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0001290HP:0001290Generalized hypotonia0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040282 - Frequent114
HP:0001290HP:0001290Generalized hypotonia0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0001290HP:0001290Generalized hypotonia0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0001290HP:0001290Generalized hypotonia0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent449
HP:0001290HP:0001290Generalized hypotonia0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001290HP:0001290Generalized hypotonia0CACNA1C CL E G H7751390OMIM:601005Timothy syndromeHP:0040283 - Occasional572
HP:0001290HP:0001290Generalized hypotonia0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent59
HP:0001290HP:0001290Generalized hypotonia0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay48
HP:0001290HP:0001290Generalized hypotonia0CAD CL E G H7901424OMIM:616457Epileptic encephalopathy, early infantile, 50.10
HP:0001290HP:0001290Generalized hypotonia0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0001290HP:0001290Generalized hypotonia0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0001290HP:0001290Generalized hypotonia0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001290HP:0001290Generalized hypotonia0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0001290HP:0001290Generalized hypotonia0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0001290HP:0001290Generalized hypotonia0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0001290HP:0001290Generalized hypotonia0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0001290HP:0001290Generalized hypotonia0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0001290HP:0001290Generalized hypotonia0CD59 CL E G H9661689OMIM:612300Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy.3
HP:0001290HP:0001290Generalized hypotonia0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0001290HP:0001290Generalized hypotonia0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0001290HP:0001290Generalized hypotonia0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0001290HP:0001290Generalized hypotonia0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001290HP:0001290Generalized hypotonia0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0001290HP:0001290Generalized hypotonia0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent200
HP:0001290HP:0001290Generalized hypotonia0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0CEP104 CL E G H973124866OMIM:616781Joubert syndrome 255
HP:0001290HP:0001290Generalized hypotonia0CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 31.7
HP:0001290HP:0001290Generalized hypotonia0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0001290HP:0001290Generalized hypotonia0CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 15.90
HP:0001290HP:0001290Generalized hypotonia0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic65
HP:0001290HP:0001290Generalized hypotonia0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040281 - Very frequent2
HP:0001290HP:0001290Generalized hypotonia0CHD1 CL E G H11051915OMIM:617682Pilarowski-Bjornsson syndrome.2
HP:0001290HP:0001290Generalized hypotonia0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0001290HP:0001290Generalized hypotonia0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0001290HP:0001290Generalized hypotonia0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0001290HP:0001290Generalized hypotonia0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0001290HP:0001290Generalized hypotonia0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001290HP:0001290Generalized hypotonia0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0001290HP:0001290Generalized hypotonia0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0001290HP:0001290Generalized hypotonia0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0001290HP:0001290Generalized hypotonia0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development.102
HP:0001290HP:0001290Generalized hypotonia0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0001290HP:0001290Generalized hypotonia0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0001290HP:0001290Generalized hypotonia0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040282 - Frequent7
HP:0001290HP:0001290Generalized hypotonia0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001290HP:0001290Generalized hypotonia0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent18
HP:0001290HP:0001290Generalized hypotonia0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0001290HP:0001290Generalized hypotonia0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0001290HP:0001290Generalized hypotonia0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0001290HP:0001290Generalized hypotonia0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0001290HP:0001290Generalized hypotonia0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0001290HP:0001290Generalized hypotonia0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0001290HP:0001290Generalized hypotonia0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj.67
HP:0001290HP:0001290Generalized hypotonia0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001290HP:0001290Generalized hypotonia0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001290HP:0001290Generalized hypotonia0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0001290HP:0001290Generalized hypotonia0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0001290HP:0001290Generalized hypotonia0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19.6
HP:0001290HP:0001290Generalized hypotonia0COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0001290HP:0001290Generalized hypotonia0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0001290HP:0001290Generalized hypotonia0COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0001290HP:0001290Generalized hypotonia0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2.243
HP:0001290HP:0001290Generalized hypotonia0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita.284
HP:0001290HP:0001290Generalized hypotonia0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0001290HP:0001290Generalized hypotonia0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0001290HP:0001290Generalized hypotonia0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0001290HP:0001290Generalized hypotonia0COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3.
HP:0001290HP:0001290Generalized hypotonia0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0001290HP:0001290Generalized hypotonia0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 8.1
HP:0001290HP:0001290Generalized hypotonia0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4.136
HP:0001290HP:0001290Generalized hypotonia0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0001290HP:0001290Generalized hypotonia0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001290HP:0001290Generalized hypotonia0COX15 CL E G H13552263OMIM:615119Mitochondrial complex IV deficiency, nuclear type 6.104
HP:0001290HP:0001290Generalized hypotonia0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001290HP:0001290Generalized hypotonia0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0001290HP:0001290Generalized hypotonia0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0001290HP:0001290Generalized hypotonia0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0001290HP:0001290Generalized hypotonia0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0001290HP:0001290Generalized hypotonia0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001290HP:0001290Generalized hypotonia0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0001290HP:0001290Generalized hypotonia0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040283 - Occasional101
HP:0001290HP:0001290Generalized hypotonia0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0001290HP:0001290Generalized hypotonia0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0001290HP:0001290Generalized hypotonia0CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0001290HP:0001290Generalized hypotonia0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0001290HP:0001290Generalized hypotonia0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040282 - Frequent57
HP:0001290HP:0001290Generalized hypotonia0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.2
HP:0001290HP:0001290Generalized hypotonia0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001290HP:0001290Generalized hypotonia0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0001290HP:0001290Generalized hypotonia0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0001290HP:0001290Generalized hypotonia0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0001290HP:0001290Generalized hypotonia0CUX1 CL E G H15232557OMIM:618330Global developmental delay with or without impaired intellectual developmentHP:0040284 - Very rare1
HP:0001290HP:0001290Generalized hypotonia0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0001290HP:0001290Generalized hypotonia0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001290HP:0001290Generalized hypotonia0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040282 - Frequent73
HP:0001290HP:0001290Generalized hypotonia0CYP24A1 CL E G H15912602OMIM:143880Hypercalcemia, infantile, 1.73
HP:0001290HP:0001290Generalized hypotonia0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040282 - Frequent41
HP:0001290HP:0001290Generalized hypotonia0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0001290HP:0001290Generalized hypotonia0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040282 - Frequent5
HP:0001290HP:0001290Generalized hypotonia0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0001290HP:0001290Generalized hypotonia0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0001290HP:0001290Generalized hypotonia0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001290HP:0001290Generalized hypotonia0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0001290HP:0001290Generalized hypotonia0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0001290HP:0001290Generalized hypotonia0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0001290HP:0001290Generalized hypotonia0DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040281 - Very frequent62
HP:0001290HP:0001290Generalized hypotonia0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0001290HP:0001290Generalized hypotonia0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0001290HP:0001290Generalized hypotonia0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040282 - Frequent57
HP:0001290HP:0001290Generalized hypotonia0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0001290HP:0001290Generalized hypotonia0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001290HP:0001290Generalized hypotonia0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0001290HP:0001290Generalized hypotonia0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent47
HP:0001290HP:0001290Generalized hypotonia0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0001290HP:0001290Generalized hypotonia0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001290HP:0001290Generalized hypotonia0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0001290HP:0001290Generalized hypotonia0DIAPH1 CL E G H17292876OMIM:616632Seizures, cortical blindness, and microcephaly syndromeHP:0040283 - Occasional118
HP:0001290HP:0001290Generalized hypotonia0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent22
HP:0001290HP:0001290Generalized hypotonia0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040281 - Very frequent89
HP:0001290HP:0001290Generalized hypotonia0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent3
HP:0001290HP:0001290Generalized hypotonia0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0001290HP:0001290Generalized hypotonia0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0001290HP:0001290Generalized hypotonia0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient.3
HP:0001290HP:0001290Generalized hypotonia0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31.72
HP:0001290HP:0001290Generalized hypotonia0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent72
HP:0001290HP:0001290Generalized hypotonia0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0001290HP:0001290Generalized hypotonia0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0001290HP:0001290Generalized hypotonia0DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5.167
HP:0001290HP:0001290Generalized hypotonia0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0001290HP:0001290Generalized hypotonia0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent38
HP:0001290HP:0001290Generalized hypotonia0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0001290HP:0001290Generalized hypotonia0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0001290HP:0001290Generalized hypotonia0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040282 - Frequent26
HP:0001290HP:0001290Generalized hypotonia0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0001290HP:0001290Generalized hypotonia0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies.1
HP:0001290HP:0001290Generalized hypotonia0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0001290HP:0001290Generalized hypotonia0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001290HP:0001290Generalized hypotonia0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0001290HP:0001290Generalized hypotonia0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0001290HP:0001290Generalized hypotonia0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency.33
HP:0001290HP:0001290Generalized hypotonia0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:0001290HP:0001290Generalized hypotonia0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0001290HP:0001290Generalized hypotonia0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent60
HP:0001290HP:0001290Generalized hypotonia0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0001290HP:0001290Generalized hypotonia0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0001290HP:0001290Generalized hypotonia0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome.223
HP:0001290HP:0001290Generalized hypotonia0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0001290HP:0001290Generalized hypotonia0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0001290HP:0001290Generalized hypotonia0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0001290HP:0001290Generalized hypotonia0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0001290HP:0001290Generalized hypotonia0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0001290HP:0001290Generalized hypotonia0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0001290HP:0001290Generalized hypotonia0ELAC2 CL E G H6052814198OMIM:615440Combined oxidative phosphorylation deficiency 17.67
HP:0001290HP:0001290Generalized hypotonia0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome.172
HP:0001290HP:0001290Generalized hypotonia0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0001290HP:0001290Generalized hypotonia0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation.5
HP:0001290HP:0001290Generalized hypotonia0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0001290HP:0001290Generalized hypotonia0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0001290HP:0001290Generalized hypotonia0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001290HP:0001290Generalized hypotonia0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001290HP:0001290Generalized hypotonia0ERF CL E G H20773444OMIM:617180Chitayat syndromeHP:0040283 - Occasional12
HP:0001290HP:0001290Generalized hypotonia0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0001290HP:0001290Generalized hypotonia0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0001290HP:0001290Generalized hypotonia0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001290HP:0001290Generalized hypotonia0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0001290HP:0001290Generalized hypotonia0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0001290HP:0001290Generalized hypotonia0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0001290HP:0001290Generalized hypotonia0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001290HP:0001290Generalized hypotonia0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001290HP:0001290Generalized hypotonia0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications.
HP:0001290HP:0001290Generalized hypotonia0FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0001290HP:0001290Generalized hypotonia0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0001290HP:0001290Generalized hypotonia0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
HP:0001290HP:0001290Generalized hypotonia0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0001290HP:0001290Generalized hypotonia0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0001290HP:0001290Generalized hypotonia0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001290HP:0001290Generalized hypotonia0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0001290HP:0001290Generalized hypotonia0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001290HP:0001290Generalized hypotonia0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001290HP:0001290Generalized hypotonia0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent17
HP:0001290HP:0001290Generalized hypotonia0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001290HP:0001290Generalized hypotonia0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0001290HP:0001290Generalized hypotonia0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0001290HP:0001290Generalized hypotonia0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040282 - Frequent157
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0001290HP:0001290Generalized hypotonia0FLAD1 CL E G H8030824671OMIM:255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency.18
HP:0001290HP:0001290Generalized hypotonia0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0001290HP:0001290Generalized hypotonia0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0001290HP:0001290Generalized hypotonia0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040282 - Frequent111
HP:0001290HP:0001290Generalized hypotonia0FMN2 CL E G H5677614074OMIM:616193MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT4744
HP:0001290HP:0001290Generalized hypotonia0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0001290HP:0001290Generalized hypotonia0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent48
HP:0001290HP:0001290Generalized hypotonia0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0001290HP:0001290Generalized hypotonia0FRA16E CL E G H24643861OMIM:136570Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included
HP:0001290HP:0001290Generalized hypotonia0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0001290HP:0001290Generalized hypotonia0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 59.5
HP:0001290HP:0001290Generalized hypotonia0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001290HP:0001290Generalized hypotonia0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0001290HP:0001290Generalized hypotonia0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent4
HP:0001290HP:0001290Generalized hypotonia0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0001290HP:0001290Generalized hypotonia0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0GABRB1 CL E G H25604081OMIM:617153Epileptic encephalopathy, early infantile, 45.3
HP:0001290HP:0001290Generalized hypotonia0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent44
HP:0001290HP:0001290Generalized hypotonia0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 43.57
HP:0001290HP:0001290Generalized hypotonia0GABRG2 CL E G H25664087OMIM:618396Epileptic encephalopathy, early infantile, 74.139
HP:0001290HP:0001290Generalized hypotonia0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent139
HP:0001290HP:0001290Generalized hypotonia0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0001290HP:0001290Generalized hypotonia0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001290HP:0001290Generalized hypotonia0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040281 - Very frequent121
HP:0001290HP:0001290Generalized hypotonia0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001290HP:0001290Generalized hypotonia0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent2
HP:0001290HP:0001290Generalized hypotonia0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0001290HP:0001290Generalized hypotonia0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0001290HP:0001290Generalized hypotonia0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0001290HP:0001290Generalized hypotonia0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001290HP:0001290Generalized hypotonia0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent128
HP:0001290HP:0001290Generalized hypotonia0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0001290HP:0001290Generalized hypotonia0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0001290HP:0001290Generalized hypotonia0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0001290HP:0001290Generalized hypotonia0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0001290HP:0001290Generalized hypotonia0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent173
HP:0001290HP:0001290Generalized hypotonia0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040283 - Occasional17
HP:0001290HP:0001290Generalized hypotonia0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0001290HP:0001290Generalized hypotonia0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0001290HP:0001290Generalized hypotonia0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndromeHP:0040283 - Occasional24
HP:0001290HP:0001290Generalized hypotonia0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent34
HP:0001290HP:0001290Generalized hypotonia0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:0001290HP:0001290Generalized hypotonia0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0001290HP:0001290Generalized hypotonia0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040281 - Very frequent12
HP:0001290HP:0001290Generalized hypotonia0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001290HP:0001290Generalized hypotonia0GNB5 CL E G H106814401OMIM:617173Intellectual developmental disorder with cardiac arrhythmia.7
HP:0001290HP:0001290Generalized hypotonia0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0001290HP:0001290Generalized hypotonia0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0001290HP:0001290Generalized hypotonia0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0001290HP:0001290Generalized hypotonia0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0GPHN CL E G H1024315465OMIM:615501Molybdenum cofactor deficiency, complementation group C.18
HP:0001290HP:0001290Generalized hypotonia0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040282 - Frequent3
HP:0001290HP:0001290Generalized hypotonia0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0001290HP:0001290Generalized hypotonia0GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyHP:0040282 - Frequent18
HP:0001290HP:0001290Generalized hypotonia0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0001290HP:0001290Generalized hypotonia0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures.274
HP:0001290HP:0001290Generalized hypotonia0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001290HP:0001290Generalized hypotonia0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001290HP:0001290Generalized hypotonia0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001290HP:0001290Generalized hypotonia0GTPBP3 CL E G H8470514880OMIM:616198Combined oxidative phosphorylation deficiency 23.30
HP:0001290HP:0001290Generalized hypotonia0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures.10
HP:0001290HP:0001290Generalized hypotonia0HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency.41
HP:0001290HP:0001290Generalized hypotonia0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional99
HP:0001290HP:0001290Generalized hypotonia0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx type.100
HP:0001290HP:0001290Generalized hypotonia0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent54
HP:0001290HP:0001290Generalized hypotonia0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0001290HP:0001290Generalized hypotonia0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0001290HP:0001290Generalized hypotonia0HEPACAM CL E G H22029626361OMIM:613926Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation.82
HP:0001290HP:0001290Generalized hypotonia0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 38.38
HP:0001290HP:0001290Generalized hypotonia0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001290HP:0001290Generalized hypotonia0HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency.32
HP:0001290HP:0001290Generalized hypotonia0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0001290HP:0001290Generalized hypotonia0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0001290HP:0001290Generalized hypotonia0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0001290HP:0001290Generalized hypotonia0HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 54.39
HP:0001290HP:0001290Generalized hypotonia0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0001290HP:0001290Generalized hypotonia0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0001290HP:0001290Generalized hypotonia0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0001290HP:0001290Generalized hypotonia0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0001290HP:0001290Generalized hypotonia0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
HP:0001290HP:0001290Generalized hypotonia0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0001290HP:0001290Generalized hypotonia0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.28
HP:0001290HP:0001290Generalized hypotonia0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0001290HP:0001290Generalized hypotonia0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0001290HP:0001290Generalized hypotonia0IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies.9
HP:0001290HP:0001290Generalized hypotonia0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0001290HP:0001290Generalized hypotonia0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0001290HP:0001290Generalized hypotonia0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001290HP:0001290Generalized hypotonia0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001290HP:0001290Generalized hypotonia0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1.119
HP:0001290HP:0001290Generalized hypotonia0ISCA2 CL E G H12296119857OMIM:616370Multiple mitochondrial dysfunctions syndrome 4.7
HP:0001290HP:0001290Generalized hypotonia0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0001290HP:0001290Generalized hypotonia0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0001290HP:0001290Generalized hypotonia0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040282 - Frequent177
HP:0001290HP:0001290Generalized hypotonia0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0001290HP:0001290Generalized hypotonia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0001290HP:0001290Generalized hypotonia0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0001290HP:0001290Generalized hypotonia0KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant.141
HP:0001290HP:0001290Generalized hypotonia0KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0001290HP:0001290Generalized hypotonia0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0001290HP:0001290Generalized hypotonia0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001290HP:0001290Generalized hypotonia0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent65
HP:0001290HP:0001290Generalized hypotonia0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0001290HP:0001290Generalized hypotonia0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0001290HP:0001290Generalized hypotonia0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0001290HP:0001290Generalized hypotonia0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0001290HP:0001290Generalized hypotonia0KCNMA1 CL E G H37786284OMIM:617643Cerebellar atrophy, developmental delay, and seizures.114
HP:0001290HP:0001290Generalized hypotonia0KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndromeHP:0040283 - Occasional114
HP:0001290HP:0001290Generalized hypotonia0KCNMA1 CL E G H37786284OMIM:609446Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsyHP:0040284 - Very rare114
HP:0001290HP:0001290Generalized hypotonia0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0001290HP:0001290Generalized hypotonia0KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7.528
HP:0001290HP:0001290Generalized hypotonia0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14.321
HP:0001290HP:0001290Generalized hypotonia0KCNT2 CL E G H34345018866OMIM:617771Epileptic encephalopathy, early infantile, 57.1
HP:0001290HP:0001290Generalized hypotonia0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features.3
HP:0001290HP:0001290Generalized hypotonia0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0001290HP:0001290Generalized hypotonia0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0001290HP:0001290Generalized hypotonia0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0001290HP:0001290Generalized hypotonia0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040282 - Frequent24
HP:0001290HP:0001290Generalized hypotonia0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0001290HP:0001290Generalized hypotonia0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0001290HP:0001290Generalized hypotonia0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0001290HP:0001290Generalized hypotonia0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9HP:0040283 - Occasional276
HP:0001290HP:0001290Generalized hypotonia0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0001290HP:0001290Generalized hypotonia0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0001290HP:0001290Generalized hypotonia0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0001290HP:0001290Generalized hypotonia0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0001290HP:0001290Generalized hypotonia0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0001290HP:0001290Generalized hypotonia0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0001290HP:0001290Generalized hypotonia0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0001290HP:0001290Generalized hypotonia0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0001290HP:0001290Generalized hypotonia0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 2HP:0040284 - Very rare99
HP:0001290HP:0001290Generalized hypotonia0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0001290HP:0001290Generalized hypotonia0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0001290HP:0001290Generalized hypotonia0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndromeHP:0040283 - Occasional35
HP:0001290HP:0001290Generalized hypotonia0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0001290HP:0001290Generalized hypotonia0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1.
HP:0001290HP:0001290Generalized hypotonia0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001290HP:0001290Generalized hypotonia0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0001290HP:0001290Generalized hypotonia0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0001290HP:0001290Generalized hypotonia0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0001290HP:0001290Generalized hypotonia0LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 10.11
HP:0001290HP:0001290Generalized hypotonia0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0001290HP:0001290Generalized hypotonia0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0001290HP:0001290Generalized hypotonia0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome.125
HP:0001290HP:0001290Generalized hypotonia0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0001290HP:0001290Generalized hypotonia0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0001290HP:0001290Generalized hypotonia0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001290HP:0001290Generalized hypotonia0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0001290HP:0001290Generalized hypotonia0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0001290HP:0001290Generalized hypotonia0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040282 - Frequent4
HP:0001290HP:0001290Generalized hypotonia0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001290HP:0001290Generalized hypotonia0MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040281 - Very frequent5
HP:0001290HP:0001290Generalized hypotonia0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0001290HP:0001290Generalized hypotonia0MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL.55
HP:0001290HP:0001290Generalized hypotonia0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0001290HP:0001290Generalized hypotonia0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001290HP:0001290Generalized hypotonia0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0001290HP:0001290Generalized hypotonia0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25.25
HP:0001290HP:0001290Generalized hypotonia0MAST1 CL E G H2298319034OMIM:618273Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations.1
HP:0001290HP:0001290Generalized hypotonia0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 57.5
HP:0001290HP:0001290Generalized hypotonia0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0001290HP:0001290Generalized hypotonia0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001290HP:0001290Generalized hypotonia0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV.78
HP:0001290HP:0001290Generalized hypotonia0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0001290HP:0001290Generalized hypotonia0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0001290HP:0001290Generalized hypotonia0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects.74
HP:0001290HP:0001290Generalized hypotonia0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0001290HP:0001290Generalized hypotonia0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001290HP:0001290Generalized hypotonia0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0001290HP:0001290Generalized hypotonia0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0001290HP:0001290Generalized hypotonia0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001290HP:0001290Generalized hypotonia0MIPEP CL E G H42857104OMIM:617228Combined oxidative phosphorylation deficiency 31.7
HP:0001290HP:0001290Generalized hypotonia0MITF CL E G H42867105OMIM:617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.91
HP:0001290HP:0001290Generalized hypotonia0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001290HP:0001290Generalized hypotonia0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001290HP:0001290Generalized hypotonia0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0001290HP:0001290Generalized hypotonia0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome.1
HP:0001290HP:0001290Generalized hypotonia0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency80
HP:0001290HP:0001290Generalized hypotonia0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0001290HP:0001290Generalized hypotonia0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0001290HP:0001290Generalized hypotonia0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0001290HP:0001290Generalized hypotonia0MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type.50
HP:0001290HP:0001290Generalized hypotonia0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0001290HP:0001290Generalized hypotonia0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0001290HP:0001290Generalized hypotonia0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0001290HP:0001290Generalized hypotonia0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040284 - Very rare8
HP:0001290HP:0001290Generalized hypotonia0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency.6
HP:0001290HP:0001290Generalized hypotonia0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib.51
HP:0001290HP:0001290Generalized hypotonia0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001290HP:0001290Generalized hypotonia0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0001290HP:0001290Generalized hypotonia0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0001290HP:0001290Generalized hypotonia0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 5.25
HP:0001290HP:0001290Generalized hypotonia0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001290HP:0001290Generalized hypotonia0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001290HP:0001290Generalized hypotonia0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0001290HP:0001290Generalized hypotonia0MTFMT CL E G H12326329666OMIM:614947Combined oxidative phosphorylation deficiency 15HP:0040283 - Occasional29
HP:0001290HP:0001290Generalized hypotonia0MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040281 - Very frequent185
HP:0001290HP:0001290Generalized hypotonia0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0001290HP:0001290Generalized hypotonia0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0001290HP:0001290Generalized hypotonia0MTO1 CL E G H2582119261OMIM:614702Combined oxidative phosphorylation deficiency 10.39
HP:0001290HP:0001290Generalized hypotonia0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0001290HP:0001290Generalized hypotonia0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type.217
HP:0001290HP:0001290Generalized hypotonia0MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E type.88
HP:0001290HP:0001290Generalized hypotonia0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001290HP:0001290Generalized hypotonia0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0001290HP:0001290Generalized hypotonia0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0001290HP:0001290Generalized hypotonia0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegia105
HP:0001290HP:0001290Generalized hypotonia0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent1269
HP:0001290HP:0001290Generalized hypotonia0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0001290HP:0001290Generalized hypotonia0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0001290HP:0001290Generalized hypotonia0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0001290HP:0001290Generalized hypotonia0MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 1HP:0040281 - Very frequent35
HP:0001290HP:0001290Generalized hypotonia0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001290HP:0001290Generalized hypotonia0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0001290HP:0001290Generalized hypotonia0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0001290HP:0001290Generalized hypotonia0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0001290HP:0001290Generalized hypotonia0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040282 - Frequent23
HP:0001290HP:0001290Generalized hypotonia0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001290HP:0001290Generalized hypotonia0NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0001290HP:0001290Generalized hypotonia0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0001290HP:0001290Generalized hypotonia0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001290HP:0001290Generalized hypotonia0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001290HP:0001290Generalized hypotonia0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0001290HP:0001290Generalized hypotonia0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0001290HP:0001290Generalized hypotonia0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0001290HP:0001290Generalized hypotonia0NDUFA10 CL E G H47057684OMIM:618243Mitochondrial complex I deficiency, nuclear type 22.91
HP:0001290HP:0001290Generalized hypotonia0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 14.32
HP:0001290HP:0001290Generalized hypotonia0NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 23.7
HP:0001290HP:0001290Generalized hypotonia0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0001290HP:0001290Generalized hypotonia0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 33.1
HP:0001290HP:0001290Generalized hypotonia0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 10.26
HP:0001290HP:0001290Generalized hypotonia0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 15.50
HP:0001290HP:0001290Generalized hypotonia0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 16.34
HP:0001290HP:0001290Generalized hypotonia0NDUFB3 CL E G H47097698OMIM:618246Mitochondrial complex I deficiency, nuclear type 25.9
HP:0001290HP:0001290Generalized hypotonia0NDUFB8 CL E G H47147703OMIM:618252Mitochondrial complex I deficiency, nuclear type 32.
HP:0001290HP:0001290Generalized hypotonia0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0001290HP:0001290Generalized hypotonia0NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 8.22
HP:0001290HP:0001290Generalized hypotonia0NDUFS7 CL E G H3742917714OMIM:618224Mitochondrial complex I deficiency, nuclear type 3.38
HP:0001290HP:0001290Generalized hypotonia0NDUFV2 CL E G H47297717OMIM:618229Mitochondrial complex I deficiency, nuclear type 7.27
HP:0001290HP:0001290Generalized hypotonia0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0001290HP:0001290Generalized hypotonia0NECAP1 CL E G H2597724539OMIM:615833Epileptic encephalopathy, early infantile, 21.1
HP:0001290HP:0001290Generalized hypotonia0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001290HP:0001290Generalized hypotonia0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0001290HP:0001290Generalized hypotonia0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001290HP:0001290Generalized hypotonia0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0001290HP:0001290Generalized hypotonia0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0001290HP:0001290Generalized hypotonia0NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0001290HP:0001290Generalized hypotonia0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress.51
HP:0001290HP:0001290Generalized hypotonia0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0001290HP:0001290Generalized hypotonia0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent45
HP:0001290HP:0001290Generalized hypotonia0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0001290HP:0001290Generalized hypotonia0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001290HP:0001290Generalized hypotonia0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0001290HP:0001290Generalized hypotonia0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0001290HP:0001290Generalized hypotonia0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001290HP:0001290Generalized hypotonia0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1.258
HP:0001290HP:0001290Generalized hypotonia0NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 4.85
HP:0001290HP:0001290Generalized hypotonia0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6HP:0040280 - Obligate102
HP:0001290HP:0001290Generalized hypotonia0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2.470
HP:0001290HP:0001290Generalized hypotonia0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001290HP:0001290Generalized hypotonia0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040282 - Frequent34
HP:0001290HP:0001290Generalized hypotonia0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0001290HP:0001290Generalized hypotonia0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0001290HP:0001290Generalized hypotonia0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent8
HP:0001290HP:0001290Generalized hypotonia0NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 8.1
HP:0001290HP:0001290Generalized hypotonia0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 9.1
HP:0001290HP:0001290Generalized hypotonia0NUS1 CL E G H11615021042OMIM:617082Congenital disorder of glycosylation, type IAA.1
HP:0001290HP:0001290Generalized hypotonia0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001290HP:0001290Generalized hypotonia0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0001290HP:0001290Generalized hypotonia0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0001290HP:0001290Generalized hypotonia0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0001290HP:0001290Generalized hypotonia0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0001290HP:0001290Generalized hypotonia0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040282 - Frequent55
HP:0001290HP:0001290Generalized hypotonia0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0001290HP:0001290Generalized hypotonia0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0001290HP:0001290Generalized hypotonia0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0001290HP:0001290Generalized hypotonia0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0001290HP:0001290Generalized hypotonia0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5.41
HP:0001290HP:0001290Generalized hypotonia0OXR1 CL E G H5507415822OMIM:213000Cerebellar hypoplasia.1
HP:0001290HP:0001290Generalized hypotonia0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001290HP:0001290Generalized hypotonia0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0001290HP:0001290Generalized hypotonia0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0001290HP:0001290Generalized hypotonia0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
HP:0001290HP:0001290Generalized hypotonia0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent14
HP:0001290HP:0001290Generalized hypotonia0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001290HP:0001290Generalized hypotonia0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0001290HP:0001290Generalized hypotonia0PCBD1 CL E G H50928646OMIM:264070Hyperphenylalaninemia, BH4-deficient, D24
HP:0001290HP:0001290Generalized hypotonia0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0001290HP:0001290Generalized hypotonia0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0001290HP:0001290Generalized hypotonia0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0001290HP:0001290Generalized hypotonia0PDHB CL E G H51628808OMIM:614111PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD37
HP:0001290HP:0001290Generalized hypotonia0PDP1 CL E G H547049279OMIM:608782Pyruvate dehydrogenase phosphatase deficiency.52
HP:0001290HP:0001290Generalized hypotonia0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0001290HP:0001290Generalized hypotonia0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0001290HP:0001290Generalized hypotonia0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0001290HP:0001290Generalized hypotonia0PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger).75
HP:0001290HP:0001290Generalized hypotonia0PEX12 CL E G H51938854OMIM:614859Peroxisome biogenesis disorder 3A (Zellweger).65
HP:0001290HP:0001290Generalized hypotonia0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0001290HP:0001290Generalized hypotonia0PEX13 CL E G H51948855OMIM:614885Peroxisome biogenesis disorder 11B.66
HP:0001290HP:0001290Generalized hypotonia0PEX14 CL E G H51958856OMIM:614887Peroxisome biogenesis disorder 13A (Zellweger).46
HP:0001290HP:0001290Generalized hypotonia0PEX16 CL E G H94098857OMIM:614876Peroxisome biogenesis disorder 8A (Zellweger).59
HP:0001290HP:0001290Generalized hypotonia0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0001290HP:0001290Generalized hypotonia0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0001290HP:0001290Generalized hypotonia0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0001290HP:0001290Generalized hypotonia0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0001290HP:0001290Generalized hypotonia0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger).98
HP:0001290HP:0001290Generalized hypotonia0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0001290HP:0001290Generalized hypotonia0PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3.8
HP:0001290HP:0001290Generalized hypotonia0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0001290HP:0001290Generalized hypotonia0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 23.15
HP:0001290HP:0001290Generalized hypotonia0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0001290HP:0001290Generalized hypotonia0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29
HP:0001290HP:0001290Generalized hypotonia0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0001290HP:0001290Generalized hypotonia0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0001290HP:0001290Generalized hypotonia0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0001290HP:0001290Generalized hypotonia0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001290HP:0001290Generalized hypotonia0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0001290HP:0001290Generalized hypotonia0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0001290HP:0001290Generalized hypotonia0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0001290HP:0001290Generalized hypotonia0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0001290HP:0001290Generalized hypotonia0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0001290HP:0001290Generalized hypotonia0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001290HP:0001290Generalized hypotonia0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0001290HP:0001290Generalized hypotonia0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation.57
HP:0001290HP:0001290Generalized hypotonia0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0001290HP:0001290Generalized hypotonia0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0001290HP:0001290Generalized hypotonia0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:0001290HP:0001290Generalized hypotonia0PLCH1 CL E G H2300729185OMIM:619895
HP:0001290HP:0001290Generalized hypotonia0PLEKHG2 CL E G H6485729515OMIM:616763Leukodystrophy and acquired microcephaly with or without dystonia3
HP:0001290HP:0001290Generalized hypotonia0PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included11
HP:0001290HP:0001290Generalized hypotonia0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0001290HP:0001290Generalized hypotonia0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0001290HP:0001290Generalized hypotonia0PMPCB CL E G H95129119OMIM:617954Multiple mitochondrial dysfunctions syndrome 6.
HP:0001290HP:0001290Generalized hypotonia0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0001290HP:0001290Generalized hypotonia0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0001290HP:0001290Generalized hypotonia0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0001290HP:0001290Generalized hypotonia0PNPLA8 CL E G H5064028900OMIM:251950Mitochondrial myopathy with lactic acidosis.3
HP:0001290HP:0001290Generalized hypotonia0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040282 - Frequent60
HP:0001290HP:0001290Generalized hypotonia0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosisHP:0040283 - Occasional10
HP:0001290HP:0001290Generalized hypotonia0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0001290HP:0001290Generalized hypotonia0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001290HP:0001290Generalized hypotonia0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0001290HP:0001290Generalized hypotonia0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type).464
HP:0001290HP:0001290Generalized hypotonia0POLG CL E G H54289179ORPHA:94125Recessive mitochondrial ataxia syndromeHP:0040282 - Frequent464
HP:0001290HP:0001290Generalized hypotonia0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0001290HP:0001290Generalized hypotonia0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4HP:0040283 - Occasional45
HP:0001290HP:0001290Generalized hypotonia0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001290HP:0001290Generalized hypotonia0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0001290HP:0001290Generalized hypotonia0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0001290HP:0001290Generalized hypotonia0POMGNT2 CL E G H8489225902OMIM:614830MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8.33
HP:0001290HP:0001290Generalized hypotonia0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0001290HP:0001290Generalized hypotonia0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.HP:0003577 - Congenital onset221
HP:0001290HP:0001290Generalized hypotonia0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0001290HP:0001290Generalized hypotonia0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0001290HP:0001290Generalized hypotonia0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0001290HP:0001290Generalized hypotonia0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040281 - Very frequent10
HP:0001290HP:0001290Generalized hypotonia0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0001290HP:0001290Generalized hypotonia0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001290HP:0001290Generalized hypotonia0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0001290HP:0001290Generalized hypotonia0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0001290HP:0001290Generalized hypotonia0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0001290HP:0001290Generalized hypotonia0PREPL CL E G H958130228OMIM:616224Myasthenic syndrome, congenital, 22.7
HP:0001290HP:0001290Generalized hypotonia0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 2.58
HP:0001290HP:0001290Generalized hypotonia0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040282 - Frequent83
HP:0001290HP:0001290Generalized hypotonia0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0001290HP:0001290Generalized hypotonia0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0001290HP:0001290Generalized hypotonia0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0001290HP:0001290Generalized hypotonia0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I.13
HP:0001290HP:0001290Generalized hypotonia0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0001290HP:0001290Generalized hypotonia0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0001290HP:0001290Generalized hypotonia0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0001290HP:0001290Generalized hypotonia0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0001290HP:0001290Generalized hypotonia0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0001290HP:0001290Generalized hypotonia0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent665
HP:0001290HP:0001290Generalized hypotonia0PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 4HP:0040283 - Occasional34
HP:0001290HP:0001290Generalized hypotonia0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0001290HP:0001290Generalized hypotonia0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0001290HP:0001290Generalized hypotonia0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0001290HP:0001290Generalized hypotonia0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0001290HP:0001290Generalized hypotonia0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0001290HP:0001290Generalized hypotonia0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0001290HP:0001290Generalized hypotonia0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short statureHP:0040284 - Very rare
HP:0001290HP:0001290Generalized hypotonia0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001290HP:0001290Generalized hypotonia0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001290HP:0001290Generalized hypotonia0QARS1 CL E G H58599751OMIM:615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.
HP:0001290HP:0001290Generalized hypotonia0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0001290HP:0001290Generalized hypotonia0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0001290HP:0001290Generalized hypotonia0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0001290HP:0001290Generalized hypotonia0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040282 - Frequent16
HP:0001290HP:0001290Generalized hypotonia0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0001290HP:0001290Generalized hypotonia0REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7.
HP:0001290HP:0001290Generalized hypotonia0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart.16
HP:0001290HP:0001290Generalized hypotonia0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0001290HP:0001290Generalized hypotonia0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0001290HP:0001290Generalized hypotonia0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0001290HP:0001290Generalized hypotonia0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0001290HP:0001290Generalized hypotonia0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0001290HP:0001290Generalized hypotonia0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0001290HP:0001290Generalized hypotonia0RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 3.60
HP:0001290HP:0001290Generalized hypotonia0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001290HP:0001290Generalized hypotonia0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0001290HP:0001290Generalized hypotonia0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001290HP:0001290Generalized hypotonia0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0001290HP:0001290Generalized hypotonia0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome.15
HP:0001290HP:0001290Generalized hypotonia0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0001290HP:0001290Generalized hypotonia0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0001290HP:0001290Generalized hypotonia0RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0001290HP:0001290Generalized hypotonia0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0001290HP:0001290Generalized hypotonia0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0001290HP:0001290Generalized hypotonia0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0001290HP:0001290Generalized hypotonia0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0001290HP:0001290Generalized hypotonia0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0001290HP:0001290Generalized hypotonia0RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy).125
HP:0001290HP:0001290Generalized hypotonia0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0001290HP:0001290Generalized hypotonia0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya typeHP:0040283 - Occasional2
HP:0001290HP:0001290Generalized hypotonia0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0001290HP:0001290Generalized hypotonia0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0001290HP:0001290Generalized hypotonia0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathyHP:0040281 - Very frequent1200
HP:0001290HP:0001290Generalized hypotonia0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040282 - Frequent1200
HP:0001290HP:0001290Generalized hypotonia0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0001290HP:0001290Generalized hypotonia0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS.80
HP:0001290HP:0001290Generalized hypotonia0SCN1B CL E G H632410586OMIM:617350Epileptic encephalopathy, early infantile, 52.126
HP:0001290HP:0001290Generalized hypotonia0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0001290HP:0001290Generalized hypotonia0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent70
HP:0001290HP:0001290Generalized hypotonia0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxiaHP:0040284 - Very rare357
HP:0001290HP:0001290Generalized hypotonia0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent357
HP:0001290HP:0001290Generalized hypotonia0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0001290HP:0001290Generalized hypotonia0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0001290HP:0001290Generalized hypotonia0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0001290HP:0001290Generalized hypotonia0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0001290HP:0001290Generalized hypotonia0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0001290HP:0001290Generalized hypotonia0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0001290HP:0001290Generalized hypotonia0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0001290HP:0001290Generalized hypotonia0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent144
HP:0001290HP:0001290Generalized hypotonia0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0001290HP:0001290Generalized hypotonia0SELENON CL E G H5719015999ORPHA:97244Rigid spine syndromeHP:0040281 - Very frequent144
HP:0001290HP:0001290Generalized hypotonia0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0001290HP:0001290Generalized hypotonia0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0001290HP:0001290Generalized hypotonia0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0001290HP:0001290Generalized hypotonia0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome.60
HP:0001290HP:0001290Generalized hypotonia0SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0001290HP:0001290Generalized hypotonia0SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonicHP:0040283 - Occasional49
HP:0001290HP:0001290Generalized hypotonia0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0001290HP:0001290Generalized hypotonia0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0001290HP:0001290Generalized hypotonia0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent67
HP:0001290HP:0001290Generalized hypotonia0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001290HP:0001290Generalized hypotonia0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0001290HP:0001290Generalized hypotonia0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0001290HP:0001290Generalized hypotonia0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0001290HP:0001290Generalized hypotonia0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0001290HP:0001290Generalized hypotonia0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0001290HP:0001290Generalized hypotonia0SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0001290HP:0001290Generalized hypotonia0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0001290HP:0001290Generalized hypotonia0SLC13A3 CL E G H6484914430OMIM:618384Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate.2
HP:0001290HP:0001290Generalized hypotonia0SLC13A5 CL E G H28411123089OMIM:615905Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta.73
HP:0001290HP:0001290Generalized hypotonia0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent73
HP:0001290HP:0001290Generalized hypotonia0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0001290HP:0001290Generalized hypotonia0SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0001290HP:0001290Generalized hypotonia0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0001290HP:0001290Generalized hypotonia0SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic.2
HP:0001290HP:0001290Generalized hypotonia0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41.3
HP:0001290HP:0001290Generalized hypotonia0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001290HP:0001290Generalized hypotonia0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 6.63
HP:0001290HP:0001290Generalized hypotonia0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0001290HP:0001290Generalized hypotonia0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0001290HP:0001290Generalized hypotonia0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0001290HP:0001290Generalized hypotonia0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0001290HP:0001290Generalized hypotonia0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0001290HP:0001290Generalized hypotonia0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0001290HP:0001290Generalized hypotonia0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 28HP:0040283 - Occasional5
HP:0001290HP:0001290Generalized hypotonia0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0001290HP:0001290Generalized hypotonia0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant.68
HP:0001290HP:0001290Generalized hypotonia0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0001290HP:0001290Generalized hypotonia0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0001290HP:0001290Generalized hypotonia0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0001290HP:0001290Generalized hypotonia0SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary.52
HP:0001290HP:0001290Generalized hypotonia0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf.24
HP:0001290HP:0001290Generalized hypotonia0SLC35A3 CL E G H2344311023OMIM:615553Arthrogryposis, mental retardation, and seizures.2
HP:0001290HP:0001290Generalized hypotonia0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc.71
HP:0001290HP:0001290Generalized hypotonia0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0001290HP:0001290Generalized hypotonia0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features.2
HP:0001290HP:0001290Generalized hypotonia0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0001290HP:0001290Generalized hypotonia0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0001290HP:0001290Generalized hypotonia0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0001290HP:0001290Generalized hypotonia0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0001290HP:0001290Generalized hypotonia0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0001290HP:0001290Generalized hypotonia0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4.617
HP:0001290HP:0001290Generalized hypotonia0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0001290HP:0001290Generalized hypotonia0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0001290HP:0001290Generalized hypotonia0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0001290HP:0001290Generalized hypotonia0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0001290HP:0001290Generalized hypotonia0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism.3
HP:0001290HP:0001290Generalized hypotonia0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001290HP:0001290Generalized hypotonia0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001290HP:0001290Generalized hypotonia0SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0001290HP:0001290Generalized hypotonia0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0001290HP:0001290Generalized hypotonia0SOX4 CL E G H665911200OMIM:618506Coffin-Siris syndrome 10.
HP:0001290HP:0001290Generalized hypotonia0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome.11
HP:0001290HP:0001290Generalized hypotonia0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0001290HP:0001290Generalized hypotonia0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent20
HP:0001290HP:0001290Generalized hypotonia0SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 5.20
HP:0001290HP:0001290Generalized hypotonia0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0001290HP:0001290Generalized hypotonia0SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5.416
HP:0001290HP:0001290Generalized hypotonia0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5HP:0040283 - Occasional126
HP:0001290HP:0001290Generalized hypotonia0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0001290HP:0001290Generalized hypotonia0SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type Iy.12
HP:0001290HP:0001290Generalized hypotonia0SSR4 CL E G H674811326ORPHA:370927SSR4-CDGHP:0040280 - Obligate12
HP:0001290HP:0001290Generalized hypotonia0ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 15.41
HP:0001290HP:0001290Generalized hypotonia0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0001290HP:0001290Generalized hypotonia0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0001290HP:0001290Generalized hypotonia0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0001290HP:0001290Generalized hypotonia0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0001290HP:0001290Generalized hypotonia0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent99
HP:0001290HP:0001290Generalized hypotonia0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0001290HP:0001290Generalized hypotonia0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy.6
HP:0001290HP:0001290Generalized hypotonia0STT3A CL E G H37036172ORPHA:370921STT3A-CDGHP:0040280 - Obligate21
HP:0001290HP:0001290Generalized hypotonia0STT3B CL E G H20159530611ORPHA:370924STT3B-CDGHP:0040280 - Obligate18
HP:0001290HP:0001290Generalized hypotonia0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0001290HP:0001290Generalized hypotonia0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0001290HP:0001290Generalized hypotonia0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0001290HP:0001290Generalized hypotonia0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0001290HP:0001290Generalized hypotonia0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0001290HP:0001290Generalized hypotonia0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0001290HP:0001290Generalized hypotonia0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent108
HP:0001290HP:0001290Generalized hypotonia0SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 53.9
HP:0001290HP:0001290Generalized hypotonia0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent9
HP:0001290HP:0001290Generalized hypotonia0SZT2 CL E G H2333429040OMIM:615476Epileptic encephalopathy, early infantile, 18.123
HP:0001290HP:0001290Generalized hypotonia0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent123
HP:0001290HP:0001290Generalized hypotonia0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001290HP:0001290Generalized hypotonia0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040281 - Very frequent21
HP:0001290HP:0001290Generalized hypotonia0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0001290HP:0001290Generalized hypotonia0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.12
HP:0001290HP:0001290Generalized hypotonia0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001290HP:0001290Generalized hypotonia0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001290HP:0001290Generalized hypotonia0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0001290HP:0001290Generalized hypotonia0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0001290HP:0001290Generalized hypotonia0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0001290HP:0001290Generalized hypotonia0TBC1D24 CL E G H5746529203OMIM:615338Epileptic encephalopathy, early infantile, 16.271
HP:0001290HP:0001290Generalized hypotonia0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0001290HP:0001290Generalized hypotonia0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0001290HP:0001290Generalized hypotonia0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay.1
HP:0001290HP:0001290Generalized hypotonia0TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 24.76
HP:0001290HP:0001290Generalized hypotonia0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0001290HP:0001290Generalized hypotonia0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent1
HP:0001290HP:0001290Generalized hypotonia0TDP2 CL E G H5156717768ORPHA:404493Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiencyHP:0040283 - Occasional3
HP:0001290HP:0001290Generalized hypotonia0TDP2 CL E G H5156717768OMIM:616949Spinocerebellar ataxia, autosomal recessive 23.3
HP:0001290HP:0001290Generalized hypotonia0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040282 - Frequent39
HP:0001290HP:0001290Generalized hypotonia0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0001290HP:0001290Generalized hypotonia0TELO2 CL E G H989429099OMIM:616954You-Hoover-Fong syndrome.12
HP:0001290HP:0001290Generalized hypotonia0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001290HP:0001290Generalized hypotonia0TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0001290HP:0001290Generalized hypotonia0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0001290HP:0001290Generalized hypotonia0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040284 - Very rare80
HP:0001290HP:0001290Generalized hypotonia0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0001290HP:0001290Generalized hypotonia0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0001290HP:0001290Generalized hypotonia0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040281 - Very frequent103
HP:0001290HP:0001290Generalized hypotonia0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0001290HP:0001290Generalized hypotonia0TMEM199 CL E G H14700718085OMIM:616829Congenital disorder of glycosylation, type IIPHP:0040283 - Occasional4
HP:0001290HP:0001290Generalized hypotonia0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0001290HP:0001290Generalized hypotonia0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0001290HP:0001290Generalized hypotonia0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0001290HP:0001290Generalized hypotonia0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0001290HP:0001290Generalized hypotonia0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0001290HP:0001290Generalized hypotonia0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic faciesHP:0040284 - Very rare1
HP:0001290HP:0001290Generalized hypotonia0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0001290HP:0001290Generalized hypotonia0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0001290HP:0001290Generalized hypotonia0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0001290HP:0001290Generalized hypotonia0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001290HP:0001290Generalized hypotonia0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0001290HP:0001290Generalized hypotonia0TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4.
HP:0001290HP:0001290Generalized hypotonia0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0001290HP:0001290Generalized hypotonia0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0001290HP:0001290Generalized hypotonia0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0001290HP:0001290Generalized hypotonia0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0001290HP:0001290Generalized hypotonia0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0001290HP:0001290Generalized hypotonia0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0001290HP:0001290Generalized hypotonia0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0001290HP:0001290Generalized hypotonia0TRAF7 CL E G H8423120456OMIM:618164Cardiac, facial, and digital anomalies with developmental delay.
HP:0001290HP:0001290Generalized hypotonia0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0001290HP:0001290Generalized hypotonia0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0001290HP:0001290Generalized hypotonia0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040282 - Frequent4
HP:0001290HP:0001290Generalized hypotonia0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 1.4
HP:0001290HP:0001290Generalized hypotonia0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 35.12
HP:0001290HP:0001290Generalized hypotonia0TRMT10C CL E G H5493126022OMIM:616974Combined oxidative phosphorylation deficiency 30.3
HP:0001290HP:0001290Generalized hypotonia0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient.101
HP:0001290HP:0001290Generalized hypotonia0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040281 - Very frequent101
HP:0001290HP:0001290Generalized hypotonia0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040281 - Very frequent
HP:0001290HP:0001290Generalized hypotonia0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0001290HP:0001290Generalized hypotonia0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0001290HP:0001290Generalized hypotonia0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0001290HP:0001290Generalized hypotonia0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0001290HP:0001290Generalized hypotonia0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0001290HP:0001290Generalized hypotonia0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0001290HP:0001290Generalized hypotonia0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040284 - Very rare2
HP:0001290HP:0001290Generalized hypotonia0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent7128
HP:0001290HP:0001290Generalized hypotonia0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent7128
HP:0001290HP:0001290Generalized hypotonia0TUBA1A CL E G H784620766OMIM:611603Lissencephaly 3.106
HP:0001290HP:0001290Generalized hypotonia0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1HP:0040283 - Occasional14
HP:0001290HP:0001290Generalized hypotonia0TUBB2A CL E G H728012412OMIM:615763Cortical dysplasia, complex, with other brain malformations 5.23
HP:0001290HP:0001290Generalized hypotonia0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0001290HP:0001290Generalized hypotonia0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0001290HP:0001290Generalized hypotonia0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 29.1
HP:0001290HP:0001290Generalized hypotonia0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040283 - Occasional35
HP:0001290HP:0001290Generalized hypotonia0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0001290HP:0001290Generalized hypotonia0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001290HP:0001290Generalized hypotonia0UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0001290HP:0001290Generalized hypotonia0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0001290HP:0001290Generalized hypotonia0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0001290HP:0001290Generalized hypotonia0UFM1 CL E G H5156920597OMIM:617899Leukodystrophy, hypomyelinating, 14.
HP:0001290HP:0001290Generalized hypotonia0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0001290HP:0001290Generalized hypotonia0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0001290HP:0001290Generalized hypotonia0UQCC3 CL E G H79095534399OMIM:616111Mitochondrial complex III deficiency, nuclear type 9.6
HP:0001290HP:0001290Generalized hypotonia0UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0001290HP:0001290Generalized hypotonia0USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 2.2
HP:0001290HP:0001290Generalized hypotonia0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome.2
HP:0001290HP:0001290Generalized hypotonia0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0001290HP:0001290Generalized hypotonia0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0001290HP:0001290Generalized hypotonia0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0001290HP:0001290Generalized hypotonia0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 2.27
HP:0001290HP:0001290Generalized hypotonia0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0001290HP:0001290Generalized hypotonia0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0001290HP:0001290Generalized hypotonia0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1.63
HP:0001290HP:0001290Generalized hypotonia0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001290HP:0001290Generalized hypotonia0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0001290HP:0001290Generalized hypotonia0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001290HP:0001290Generalized hypotonia0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0001290HP:0001290Generalized hypotonia0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0001290HP:0001290Generalized hypotonia0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199
HP:0001290HP:0001290Generalized hypotonia0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent149
HP:0001290HP:0001290Generalized hypotonia0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0001290HP:0001290Generalized hypotonia0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11HP:0040283 - Occasional2
HP:0001290HP:0001290Generalized hypotonia0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001290HP:0001290Generalized hypotonia0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0001290HP:0001290Generalized hypotonia0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0001290HP:0001290Generalized hypotonia0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0001290HP:0001290Generalized hypotonia0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0001290HP:0001290Generalized hypotonia0ZIC1 CL E G H754512872OMIM:616602Craniosynostosis 65
HP:0001290HP:0001290Generalized hypotonia0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent34
HP:0001290HP:0001290Generalized hypotonia0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0001290HP:0001290Generalized hypotonia0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome.1
HP:0001290HP:0001290Generalized hypotonia0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0001290HP:0006852Episodic generalized hypotonia1ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.150
HP:0001290HP:0003397Generalized hypotonia due to defect at the neuromuscular junction1CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0001290HP:0003397Generalized hypotonia due to defect at the neuromuscular junction1CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0001290HP:0006852Episodic generalized hypotonia1SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 663


Genes (812) :AARS1 ABCC8 ACACA ACAD9 ACADM ACADS ACADSB ACAT2 ACTA1 ACTB ACTL6B ACTN2 ACY1 ADAM22 ADARB1 ADCY6 ADNP ADSL AGA AGK AIFM1 ALAD ALDH18A1 ALDH5A1 ALDH6A1 ALG1 ALG12 ALG13 ALG14 ALG2 ALG9 ALPL AMER1 AMMECR1 AMT ANK3 AP1S2 AP2M1 AP3B2 AP3D1 APC ARFGEF2 ARHGAP31 ARID2 ARL13B ARL3 ARSA ARV1 ARX ASCC1 ASXL3 ATCAY ATIC ATP1A2 ATP1A3 ATP5F1A ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATXN1 ATXN10 ATXN2 AUTS2 B3GALT6 B3GAT3 B4GALT1 B4GALT7 B9D1 BCKDHA BCKDHB BCL11B BCOR BCS1L BIN1 BLTP1 BMP1 BMPER BMPR1A BOLA3 BPTF BRAF BRPF1 BSND BUB1B C12ORF4 C12ORF57 C19ORF12 C2CD3 CACNA1A CACNA1B CACNA1C CACNA2D1 CACNA2D2 CAD CAMK2G CANT1 CARS1 CASR CBL CCDC115 CCDC22 CCDC47 CD59 CD96 CDC42 CDK10 CDK19 CDK8 CDKL5 CDON CELF2 CEP104 CEP120 CEP290 CEP41 CHAT CHD1 CHD3 CHMP1A CHRNE CHST14 CHST3 CLCN4 CLCN6 CLCN7 CLCNKA CLCNKB CLP1 CLTC CNKSR2 CNOT1 CNOT2 CNTNAP1 CNTNAP2 COA8 COG1 COG4 COG6 COG7 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL6A1 COL6A2 COL6A3 COLGALT1 COLQ COQ7 COQ8A COQ9 COX10 COX15 COX4I1 COX6A2 COX6B1 CPLANE1 CPLX1 CPT1A CPT2 CRPPA CSNK2A1 CSNK2B CSPP1 CTBP1 CTNNA2 CTU2 CUL4B CUX1 CYFIP2 CYP11B2 CYP24A1 CYP27B1 CYP2R1 DAG1 DALRD3 DBT DCHS1 DCPS DDOST DDR2 DDX11 DDX3X DEAF1 DHCR7 DHDDS DHFR DHX16 DHX30 DIAPH1 DISP1 DLD DLL1 DMPK DNA2 DNAJC12 DNM1 DNM1L DNM2 DOCK6 DPAGT1 DPM1 DPM2 DST DYNC1I2 DYRK1A EBF3 EBP ECHS1 EDN1 EED EEF1A2 EFEMP2 EFNB1 EHMT1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 ELAC2 ELN ELP1 EMC1 EN1 EP300 ERCC2 ERCC3 ERF ETHE1 EXOSC3 EXOSC5 EXOSC9 EXT2 EXTL3 EZH2 FAM149B1 FARSA FARSB FASTKD2 FAT4 FBP1 FBXL4 FBXO11 FBXW11 FDX2 FGF12 FGF13 FGF8 FGFRL1 FH FKRP FKTN FLAD1 FLCN FLNA FLVCR1 FMN2 FOXG1 FOXH1 FOXP1 FRA16E FUT8 FZR1 GABBR2 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRG2 GALE GALNT2 GAN GARS1 GAS1 GBE1 GCDH GCSH GFAP GFPT1 GLB1 GLDC GLE1 GLI2 GLRX5 GLUL GM2A GMPPA GMPPB GNAI3 GNAO1 GNB1 GNB2 GNB5 GNE GNPAT GNPTAB GPAA1 GPHN GPX4 GRID2 GRIK2 GRIN2B GRIN2D GTF2E2 GTF2H5 GTPBP3 HACE1 HADH HADHA HCFC1 HCN1 HDAC8 HECW2 HEPACAM HERC2 HIBCH HIKESHI HLCS HNRNPK HNRNPU HSD17B10 HSPD1 HTRA2 HUWE1 IARS1 IDH1 IFIH1 IFT81 IGF2 INPP5E INPPL1 IPW IQSEC1 IQSEC2 ISCA2 ITCH ITPR1 KANSL1 KAT6A KAT6B KATNIP KBTBD13 KCNA2 KCNB1 KCNC3 KCNH1 KCNJ10 KCNK9 KCNMA1 KCNN3 KCNQ2 KCNT1 KCNT2 KDM1A KDM3B KDM6A KDM6B KIAA0586 KIAA0753 KIF14 KIF1A KIF22 KIF5A KIF7 KIFBP KLHL41 KMT2A KMT2C KMT2E LAGE3 LAMA1 LARGE1 LARS1 LETM1 LIAS LIFR LMBRD1 LMOD3 LNPK LONP1 LRP5 LRPPRC LRRC32 LTBP4 LYRM7 MAG MAGEL2 MAMLD1 MAN2B1 MANBA MAP3K20 MAPK1 MAPRE2 MARS2 MAST1 MBOAT7 MCCC1 MCCC2 MCOLN1 MED12 MED12L MED13L MED25 METTL5 MGAT2 MICOS13 MIPEP MITF MKRN3 MKRN3-AS1 MKS1 MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMUT MN1 MOGS MORC2 MPC1 MPI MPLKIP MRE11 MRPS14 MRPS22 MRPS28 MSL3 MSTO1 MTFMT MTM1 MTMR14 MTO1 MTOR MTR MTRR MTX2 MVK MYF6 MYH2 MYH7 MYL2 MYMK MYO18B MYO5A MYOD1 MYPN NAA10 NAA20 NAGA NANS NARS1 NARS2 NAT8L NCAPG2 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA6 NDUFAF2 NDUFAF4 NDUFAF5 NDUFB3 NDUFB8 NDUFS1 NDUFS3 NDUFS7 NDUFV2 NEB NECAP1 NEMF NEPRO NEU1 NFASC NFIA NKX2-1 NKX6-2 NODAL NONO NOTCH3 NOVA2 NPAP1 NPC1 NPHP1 NRAS NRXN1 NSD2 NSDHL NTRK2 NUP133 NUP214 NUS1 ODC1 OFD1 OPHN1 OSGEP OSTM1 OTUD6B OTX2 OXR1 P4HTM PACS1 PACS2 PAK1 PARS2 PAX7 PBX1 PCBD1 PDE6D PDHA1 PDHB PDP1 PET100 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX2 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM3 PHF21A PHF6 PHIP PIEZO2 PIGB PIGG PIGH PIGK PIGL PIGN PIGS PIGT PIGV PIK3CA PLA2G6 PLCB4 PLCH1 PLEKHG2 PLG PMP22 PMPCA PMPCB PNP PNPLA2 PNPLA8 PNPT1 POC1A POGZ POLG POLG2 POLR2A POLR3A POMGNT1 POMGNT2 POMT1 POMT2 POU3F3 PPP1CB PPP2CA PPP2R5D PPP3CA PPT1 PRDM13 PRDX1 PREPL PRF1 PRKCG PRKD1 PRMT7 PRNP PRODH PSAP PTCH1 PTCHD1 PTDSS1 PTEN PTRH2 PUF60 PUM1 PUS3 PUS7 PWAR1 PWRN1 QARS1 RAB11B RAI1 RARS2 RBM10 REPS1 RERE RET RETREG1 RFT1 RHOBTB2 RLIM RMND1 RNASEH2C RNF113A RNF125 RNF13 RNU4ATAC ROBO3 RORA RPGRIP1L RPL10 RPS23 RPS6KA3 RRM2B RSPRY1 RYR1 SARS2 SC5D SCN1B SCN3A SCN8A SCN9A SCO1 SDHA SDHAF1 SDHB SDHD SELENON SERAC1 SERPINH1 SETD1A SETD2 SFXN4 SGCE SGPL1 SHANK3 SHH SHOC2 SIL1 SIX3 SIX6 SKI SLC12A2 SLC13A3 SLC13A5 SLC17A5 SLC18A2 SLC18A3 SLC1A2 SLC1A3 SLC22A5 SLC25A10 SLC25A15 SLC25A20 SLC25A24 SLC25A26 SLC25A4 SLC25A42 SLC25A46 SLC2A10 SLC34A3 SLC35A1 SLC35A3 SLC35C1 SLC38A3 SLC45A1 SLC46A1 SLC52A2 SLC7A7 SLC9A6 SLC9A7 SMARCA4 SMARCC2 SMC1A SMN1 SMS SNIP1 SNORD115-1 SNORD116-1 SNRPN SOX2 SOX4 SOX5 SPART SPEG SPRED1 SPTAN1 SPTBN2 SPTBN4 SSR4 ST3GAL3 ST3GAL5 STAG2 STAMBP STIL STRA6 STRADA STT3A STT3B SUCLA2 SUFU SUOX SURF1 SUZ12 SYNE1 SYNGAP1 SYNJ1 SZT2 TAF1 TANC2 TANGO2 TARS1 TASP1 TBC1D20 TBC1D23 TBC1D24 TBCE TBR1 TCTN2 TCTN3 TDGF1 TDP2 TECPR2 TELO2 TET3 TGFB1 TGIF1 TH TIMM50 TK2 TLK2 TMEM199 TMEM216 TMEM237 TMEM63A TMEM67 TMEM70 TMEM94 TNFRSF11A TOGARAM1 TOPORS TOR1A TP53RK TPI1 TPM2 TPM3 TRAF7 TRAK1 TRAPPC11 TRIM2 TRIP4 TRIT1 TRMT10C TRMU TRNE TRNN TRNS1 TRNT1 TRPS1 TSFM TSHB TSPOAP1 TTN TUBA1A TUBB TUBB2A TWNK TXN2 UBA1 UBA5 UBE3A UBE3B UBR1 UFM1 UGDH UNC80 UQCC3 UQCRQ USP18 USP7 USP9X VARS1 VDR VIPAS39 VLDLR VPS13B VPS33B VPS51 WAC WASF1 WASHC5 WDR26 WNK1 WWOX YIF1B YME1L1 YWHAG ZBTB18 ZC4H2 ZEB2 ZIC1 ZIC2 ZNF462 ZNHIT3 ZSWIM6

Diseases (794) :ORPHA:442835 OMIM:618857 OMIM:613933 ORPHA:99901 OMIM:611126 OMIM:201450 OMIM:201470 OMIM:610006 OMIM:614055 ORPHA:171439 ORPHA:97244 OMIM:243310 OMIM:618654 OMIM:609924 OMIM:617933 OMIM:618862 OMIM:616287 OMIM:615873 OMIM:103050 ORPHA:46 OMIM:208400 OMIM:212350 ORPHA:238329 OMIM:612740 OMIM:616603 OMIM:219150 OMIM:271980 OMIM:614105 OMIM:608540 ORPHA:79324 OMIM:607143 ORPHA:324422 ORPHA:353327 OMIM:607906 OMIM:616228 OMIM:608776 OMIM:241500 OMIM:300373 OMIM:300990 OMIM:605899 OMIM:615493 OMIM:304340 ORPHA:85329 OMIM:618587 OMIM:617276 OMIM:617050 ORPHA:261584 OMIM:608097 OMIM:100300 OMIM:617808 OMIM:612291 OMIM:618161 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:617020 OMIM:300215 OMIM:616867 OMIM:615485 ORPHA:94122 OMIM:608688 OMIM:601338 ORPHA:71517 OMIM:616045 OMIM:219200 OMIM:617403 OMIM:618012 OMIM:616455 OMIM:617402 OMIM:164400 ORPHA:98755 ORPHA:98761 OMIM:183090 ORPHA:98756 ORPHA:352490 OMIM:615834 OMIM:615349 OMIM:271640 OMIM:245600 OMIM:607091 OMIM:130070 OMIM:617120 OMIM:248600 OMIM:617237 OMIM:618092 OMIM:309800 OMIM:124000 ORPHA:169189 ORPHA:169186 OMIM:617822 OMIM:614856 OMIM:608022 ORPHA:79076 OMIM:614299 OMIM:617755 OMIM:115150 OMIM:613706 OMIM:617333 OMIM:602522 OMIM:257300 OMIM:618221 OMIM:218340 ORPHA:320370 OMIM:615948 OMIM:617106 OMIM:601005 OMIM:618501 OMIM:616457 OMIM:618522 OMIM:251450 ORPHA:33364 OMIM:239200 OMIM:613563 OMIM:616828 OMIM:300963 OMIM:618268 OMIM:612300 OMIM:211750 OMIM:616737 OMIM:617694 OMIM:618748 OMIM:300672 ORPHA:280195 OMIM:616781 OMIM:617761 OMIM:610188 OMIM:614464 OMIM:254210 ORPHA:529965 OMIM:617682 OMIM:618205 OMIM:614961 OMIM:605809 OMIM:608931 OMIM:601776 OMIM:300114 OMIM:619173 OMIM:618541 OMIM:613090 ORPHA:411493 OMIM:618500 OMIM:619033 OMIM:618608 OMIM:616286 OMIM:610042 ORPHA:436271 ORPHA:263508 OMIM:613489 OMIM:614576 OMIM:608779 OMIM:616471 ORPHA:75840 OMIM:616720 OMIM:619115 OMIM:130060 OMIM:619120 OMIM:617821 OMIM:183900 OMIM:618360 OMIM:603034 OMIM:616733 OMIM:612016 OMIM:614654 OMIM:619046 OMIM:615119 OMIM:619060 OMIM:619062 OMIM:619051 ORPHA:2754 OMIM:277170 OMIM:617976 OMIM:194190 OMIM:255120 ORPHA:228308 ORPHA:370980 OMIM:614643 OMIM:617062 OMIM:618732 OMIM:615636 ORPHA:397715 OMIM:617915 OMIM:618174 OMIM:618142 OMIM:300354 OMIM:618330 OMIM:618008 ORPHA:556030 OMIM:143880 ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:616538 OMIM:618910 OMIM:601390 OMIM:616459 ORPHA:300536 OMIM:271665 OMIM:613398 ORPHA:457260 OMIM:617171 OMIM:270400 OMIM:617836 OMIM:613839 OMIM:618733 OMIM:617804 OMIM:616632 ORPHA:2394 OMIM:160900 ORPHA:352470 OMIM:617384 OMIM:616346 OMIM:614388 OMIM:615368 OMIM:160150 OMIM:614219 OMIM:608093 OMIM:608799 OMIM:615042 ORPHA:329178 OMIM:614653 OMIM:618492 OMIM:614104 OMIM:617330 OMIM:300960 ORPHA:401973 OMIM:616277 ORPHA:137888 OMIM:617561 OMIM:614437 OMIM:304110 OMIM:610253 OMIM:603896 OMIM:300148 OMIM:615440 OMIM:194050 OMIM:223900 OMIM:616875 OMIM:619218 OMIM:613684 OMIM:617180 ORPHA:51188 OMIM:614678 OMIM:619576 OMIM:618065 OMIM:616682 ORPHA:508533 OMIM:277590 OMIM:619013 OMIM:613658 OMIM:618855 OMIM:615546 OMIM:229700 OMIM:615471 OMIM:618089 OMIM:618914 OMIM:251900 OMIM:606812 ORPHA:34515 OMIM:253800 OMIM:611588 OMIM:255100 OMIM:610883 ORPHA:555877 ORPHA:88628 OMIM:616193 OMIM:613454 OMIM:613670 OMIM:136570 OMIM:618005 OMIM:617904 OMIM:618557 OMIM:618559 OMIM:617153 OMIM:617113 OMIM:618396 OMIM:230350 OMIM:618885 ORPHA:643 OMIM:619042 OMIM:232500 OMIM:231670 ORPHA:363717 OMIM:230600 OMIM:611890 ORPHA:401866 OMIM:610015 OMIM:272750 OMIM:615510 OMIM:617493 ORPHA:488613 OMIM:619503 OMIM:617173 ORPHA:3166 OMIM:222765 OMIM:252500 ORPHA:529665 OMIM:615501 ORPHA:93317 OMIM:250220 ORPHA:363432 OMIM:619580 OMIM:613970 OMIM:616198 OMIM:616756 OMIM:231530 ORPHA:5 OMIM:309541 OMIM:300882 OMIM:617268 OMIM:613926 OMIM:615516 OMIM:176270 OMIM:250620 OMIM:616881 OMIM:253270 OMIM:616580 OMIM:617391 OMIM:300438 OMIM:612233 OMIM:617248 OMIM:309590 OMIM:617093 ORPHA:99646 OMIM:615846 OMIM:182250 OMIM:617895 OMIM:616489 OMIM:213300 OMIM:258480 OMIM:618687 OMIM:309530 OMIM:616370 OMIM:613385 OMIM:206700 ORPHA:208513 OMIM:610443 OMIM:616268 OMIM:606170 OMIM:603736 OMIM:616784 ORPHA:98768 ORPHA:420561 OMIM:612780 ORPHA:166108 OMIM:617643 ORPHA:79137 OMIM:609446 OMIM:618658 OMIM:613720 OMIM:614959 OMIM:617771 OMIM:616728 OMIM:618846 OMIM:300867 OMIM:618505 OMIM:616546 OMIM:617914 OMIM:614255 OMIM:201300 OMIM:603546 OMIM:617235 OMIM:200990 OMIM:609460 OMIM:605130 OMIM:617768 OMIM:618512 OMIM:301006 OMIM:615960 OMIM:608840 OMIM:615438 OMIM:614462 OMIM:601559 OMIM:277380 OMIM:616165 OMIM:618090 OMIM:600373 OMIM:259770 ORPHA:70472 OMIM:220111 OMIM:619074 OMIM:613177 OMIM:615838 ORPHA:459056 ORPHA:456328 OMIM:248500 OMIM:248510 OMIM:617760 OMIM:619087 OMIM:616734 OMIM:616430 OMIM:618273 OMIM:617188 OMIM:210200 OMIM:210210 OMIM:252650 OMIM:309520 OMIM:618872 OMIM:616789 OMIM:616449 OMIM:618665 OMIM:212066 ORPHA:79329 OMIM:618329 OMIM:617228 OMIM:617306 OMIM:617121 OMIM:248360 OMIM:251100 OMIM:251110 OMIM:277400 OMIM:277410 OMIM:251000 OMIM:618774 OMIM:606056 ORPHA:466768 OMIM:614741 OMIM:602579 ORPHA:251347 OMIM:618378 OMIM:611719 OMIM:618958 OMIM:301032 ORPHA:502423 OMIM:617675 OMIM:614947 OMIM:614702 OMIM:616638 OMIM:250940 OMIM:236270 OMIM:619127 OMIM:610377 OMIM:605637 ORPHA:324604 OMIM:619424 OMIM:254940 OMIM:616549 ORPHA:79476 OMIM:618975 ORPHA:171881 ORPHA:276432 OMIM:619717 OMIM:609241 OMIM:610442 OMIM:619091 OMIM:619092 OMIM:616239 OMIM:614063 OMIM:618460 OMIM:618243 OMIM:618236 OMIM:618244 OMIM:618249 OMIM:618253 OMIM:618233 OMIM:618237 OMIM:618238 OMIM:618246 OMIM:618252 OMIM:618226 OMIM:618230 OMIM:618224 OMIM:618229 OMIM:615833 OMIM:619099 OMIM:618853 OMIM:256550 OMIM:618356 OMIM:613735 OMIM:610978 ORPHA:527497 ORPHA:466791 OMIM:300967 OMIM:130720 OMIM:618859 OMIM:257220 OMIM:609583 OMIM:613224 OMIM:614325 ORPHA:251383 OMIM:300831 OMIM:617830 OMIM:618349 OMIM:618426 OMIM:617082 OMIM:619075 OMIM:300209 OMIM:300486 ORPHA:137831 OMIM:617729 OMIM:259720 ORPHA:505237 OMIM:617452 OMIM:610125 OMIM:213000 OMIM:618493 OMIM:615009 OMIM:618067 OMIM:618158 OMIM:618578 OMIM:617641 OMIM:264070 OMIM:615665 OMIM:312170 OMIM:614111 OMIM:608782 OMIM:619055 OMIM:214100 OMIM:601539 OMIM:614870 OMIM:614859 OMIM:266510 OMIM:614885 OMIM:614887 OMIM:614876 OMIM:614866 OMIM:614867 OMIM:614882 OMIM:214110 OMIM:614862 OMIM:614863 OMIM:614207 OMIM:615716 OMIM:615816 OMIM:618725 OMIM:301900 OMIM:617991 OMIM:617146 OMIM:248700 OMIM:618580 OMIM:616917 OMIM:618010 OMIM:618879 OMIM:280000 OMIM:614080 OMIM:618143 OMIM:615398 OMIM:239300 OMIM:602501 OMIM:256600 OMIM:619895 OMIM:616763 OMIM:217090 ORPHA:98916 OMIM:213200 OMIM:617954 OMIM:613179 OMIM:610717 ORPHA:98908 OMIM:251950 ORPHA:319514 OMIM:614813 OMIM:616364 ORPHA:254892 OMIM:203700 OMIM:613662 ORPHA:94125 OMIM:610131 OMIM:618603 OMIM:264090 OMIM:253280 OMIM:614830 OMIM:613156 OMIM:618604 OMIM:617506 OMIM:618354 ORPHA:457279 OMIM:616355 OMIM:256730 OMIM:619761 OMIM:616224 OMIM:603553 ORPHA:98763 OMIM:617364 OMIM:617157 ORPHA:157941 OMIM:239500 OMIM:611721 OMIM:249900 OMIM:300830 OMIM:151050 OMIM:616263 ORPHA:508488 OMIM:617931 ORPHA:488627 OMIM:618342 OMIM:615760 OMIM:617807 OMIM:182290 OMIM:611523 ORPHA:2886 OMIM:311900 OMIM:617916 OMIM:616975 OMIM:162300 OMIM:612015 OMIM:618004 OMIM:300978 OMIM:614922 OMIM:610329 OMIM:616260 ORPHA:544503 ORPHA:353298 OMIM:616651 OMIM:607313 OMIM:618060 OMIM:619113 OMIM:611560 OMIM:300998 OMIM:617412 OMIM:303600 OMIM:612075 ORPHA:457395 OMIM:616723 ORPHA:324581 ORPHA:98905 OMIM:613845 OMIM:607330 OMIM:617350 OMIM:617938 OMIM:614306 OMIM:619048 ORPHA:3208 OMIM:619224 OMIM:602771 OMIM:614739 OMIM:613848 OMIM:619056 OMIM:616831 OMIM:615578 OMIM:159900 OMIM:617575 OMIM:606232 OMIM:607721 OMIM:248800 OMIM:157170 OMIM:206900 OMIM:182212 OMIM:619083 OMIM:619080 OMIM:618384 OMIM:615905 OMIM:269920 OMIM:604369 ORPHA:352649 OMIM:617239 OMIM:617105 OMIM:612656 OMIM:212140 OMIM:618972 ORPHA:415 OMIM:238970 OMIM:212138 OMIM:612289 OMIM:616794 OMIM:617184 OMIM:618416 OMIM:616505 OMIM:208050 OMIM:241530 OMIM:603585 OMIM:615553 OMIM:266265 ORPHA:99843 OMIM:617532 OMIM:229050 OMIM:614707 OMIM:222700 OMIM:300243 OMIM:301024 OMIM:614609 OMIM:618362 OMIM:301044 OMIM:253300 OMIM:309583 OMIM:614501 OMIM:105830 OMIM:618506 OMIM:616803 ORPHA:101000 OMIM:615959 OMIM:611431 OMIM:613477 OMIM:600224 OMIM:617519 OMIM:300934 ORPHA:370927 OMIM:615006 OMIM:609056 OMIM:301022 ORPHA:521258 OMIM:614261 OMIM:601186 OMIM:611087 ORPHA:370921 ORPHA:370924 OMIM:612073 OMIM:617757 OMIM:272300 OMIM:220110 OMIM:618786 OMIM:618484 OMIM:617389 OMIM:615476 OMIM:300966 ORPHA:480907 OMIM:618906 OMIM:616878 OMIM:618950 OMIM:615663 OMIM:617695 OMIM:220500 OMIM:615338 ORPHA:496756 OMIM:617207 OMIM:606053 OMIM:616654 ORPHA:404493 OMIM:616949 ORPHA:320385 OMIM:615031 OMIM:616954 OMIM:618798 OMIM:618213 ORPHA:101150 OMIM:617698 OMIM:609560 ORPHA:254875 OMIM:618050 OMIM:616829 OMIM:614424 OMIM:618688 OMIM:216360 OMIM:614052 OMIM:618316 OMIM:612301 OMIM:619185 OMIM:618947 OMIM:128100 OMIM:617730 OMIM:615512 OMIM:108120 OMIM:609285 OMIM:618164 OMIM:615356 OMIM:615490 ORPHA:486815 OMIM:616866 OMIM:617873 OMIM:616974 OMIM:613070 ORPHA:254864 OMIM:616084 OMIM:190350 OMIM:610505 OMIM:275100 OMIM:611603 OMIM:156610 OMIM:615763 OMIM:271245 OMIM:616811 ORPHA:1145 OMIM:617132 OMIM:244450 OMIM:243800 OMIM:617899 OMIM:618792 OMIM:616801 OMIM:616111 OMIM:615159 OMIM:617397 OMIM:616863 OMIM:300968 OMIM:617802 OMIM:277440 OMIM:613404 OMIM:224050 OMIM:216550 OMIM:208085 OMIM:618606 OMIM:616708 OMIM:618707 OMIM:220210 OMIM:617616 OMIM:619125 OMIM:617302 OMIM:612337 OMIM:314580 OMIM:301041 OMIM:235730 OMIM:616602 OMIM:618619 OMIM:260565 OMIM:617865
 

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