Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal muscle physiology (HP:0011804)help
Parent Node:
expand
Abnormal muscle tone (HP:0003808)help
..Starting node
..expand
Hypotonia (HP:0001252)help
Term ID: 1252
Name: Hypotonia
Synonym: Central hypotonia; Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia; Peripheral hypotonia
Definition: Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Comments:
Reference: HP:0001252
Genes and Diseases:
 
       Child Nodes:
........expandFacial hypotonia (HP:0000297) help
........expandGeneralized hypotonia (HP:0001290) help
................... HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction
................... HP:0006852 Episodic generalized hypotonia
........expandNeonatal hypotonia (HP:0001319) help
................... HP:0006830 Severe neonatal hypotonia in males
................... HP:0008935 Generalized neonatal hypotonia
........expandSevere muscular hypotonia (HP:0006829) help
........expandMuscular hypotonia of the trunk (HP:0008936) help
................... HP:0009062 Infantile axial hypotonia
........expandInfantile muscular hypotonia (HP:0008947) help
................... HP:0009062 Infantile axial hypotonia
........expandAppendicular hypotonia (HP:0012389) help
........expandOral motor hypotonia (HP:0030190) help
........expandFrog-leg posture (HP:0031139) help

 Sister Nodes: 
..expandHypertonia (HP:0001276) help
..expandobsolete Central hypotonia (HP:0011398) 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:0001252HP:0001252Hypotonia0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0001252HP:0001252Hypotonia0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0001252HP:0001252Hypotonia0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001252HP:0001252Hypotonia0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0001252HP:0001252Hypotonia0AASS CL E G H1015717366OMIM:238700Hyperlysinemia, type I.15
HP:0001252HP:0001252Hypotonia0ABAT CL E G H1823OMIM:613163GABA-transaminase deficiency120
HP:0001252HP:0001252Hypotonia0ABCB7 CL E G H2248ORPHA:2802X-linked sideroblastic anemia and spinocerebellar ataxiaHP:0040283 - Occasional35
HP:0001252HP:0001252Hypotonia0ABCC8 CL E G H683359ORPHA:79134DEND syndrome245
HP:0001252HP:0001252Hypotonia0ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0001252HP:0001252Hypotonia0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0001252HP:0001252Hypotonia0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0001252HP:0001252Hypotonia0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0001252HP:0001252Hypotonia0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type.53
HP:0001252HP:0001252Hypotonia0ACACA CL E G H3184OMIM:613933Acetyl-CoA carboxylase deficiency.
HP:0001252HP:0001252Hypotonia0ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional58
HP:0001252HP:0001252Hypotonia0ACAD8 CL E G H2703487OMIM:611283Isobutyryl-CoA dehydrogenase deficiency.58
HP:0001252HP:0001252Hypotonia0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0001252HP:0001252Hypotonia0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0001252HP:0001252Hypotonia0ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of.197
HP:0001252HP:0001252Hypotonia0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent197
HP:0001252HP:0001252Hypotonia0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0001252HP:0001252Hypotonia0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiency90
HP:0001252HP:0001252Hypotonia0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0001252HP:0001252Hypotonia0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0001252HP:0001252Hypotonia0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0001252HP:0001252Hypotonia0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0001252HP:0001252Hypotonia0ACAT2 CL E G H3994OMIM:614055Acetyl-Coa acetyltransferase-2 deficiency.
HP:0001252HP:0001252Hypotonia0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0001252HP:0001252Hypotonia0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040281 - Very frequent120
HP:0001252HP:0001252Hypotonia0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0001252HP:0001252Hypotonia0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemia68
HP:0001252HP:0001252Hypotonia0ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040282 - Frequent19
HP:0001252HP:0001252Hypotonia0ACSL4 CL E G H21823571OMIM:300387MENTAL RETARDATION, X-LINKED 63; MRX6319
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040281 - Very frequent96
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H58129ORPHA:97244Rigid spine syndrome96
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathy96
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0001252HP:0001252Hypotonia0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0001252HP:0001252Hypotonia0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0001252HP:0001252Hypotonia0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0001252HP:0001252Hypotonia0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0001252HP:0001252Hypotonia0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0001252HP:0001252Hypotonia0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0001252HP:0001252Hypotonia0ACY1 CL E G H95177ORPHA:137754Neurological conditions associated with aminoacylase 1 deficiencyHP:0040282 - Frequent13
HP:0001252HP:0001252Hypotonia0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0001252HP:0001252Hypotonia0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent165
HP:0001252HP:0001252Hypotonia0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent72
HP:0001252HP:0001252Hypotonia0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0001252HP:0001252Hypotonia0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0001252HP:0001252Hypotonia0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0001252HP:0001252Hypotonia0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0001252HP:0001252Hypotonia0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0001252HP:0001252Hypotonia0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0001252HP:0001252Hypotonia0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0001252HP:0001252Hypotonia0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymia25
HP:0001252HP:0001252Hypotonia0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0001252HP:0001252Hypotonia0ADCY6 CL E G H112237ORPHA:2680Hypomyelination neuropathy-arthrogryposis syndromeHP:0040281 - Very frequent2
HP:0001252HP:0001252Hypotonia0ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 8.2
HP:0001252HP:0001252Hypotonia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0001252HP:0001252Hypotonia0ADGRL1 CL E G H2285920973OMIM:620065
HP:0001252HP:0001252Hypotonia0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional530
HP:0001252HP:0001252Hypotonia0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0001252HP:0001252Hypotonia0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0001252HP:0001252Hypotonia0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0001252HP:0001252Hypotonia0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0001252HP:0001252Hypotonia0ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiency118
HP:0001252HP:0001252Hypotonia0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0001252HP:0001252Hypotonia0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001252HP:0001252Hypotonia0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0001252HP:0001252Hypotonia0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0001252HP:0001252Hypotonia0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001252HP:0001252Hypotonia0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0001252HP:0001252Hypotonia0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0001252HP:0001252Hypotonia0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0001252HP:0001252Hypotonia0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiency31
HP:0001252HP:0001252Hypotonia0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040281 - Very frequent36
HP:0001252HP:0001252Hypotonia0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040281 - Very frequent175
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent175
HP:0001252HP:0001252Hypotonia0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent5
HP:0001252HP:0001252Hypotonia0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0001252HP:0001252Hypotonia0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathy60
HP:0001252HP:0001252Hypotonia0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 34
HP:0001252HP:0001252Hypotonia0AIPL1 CL E G H23746359ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent114
HP:0001252HP:0001252Hypotonia0ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic.62
HP:0001252HP:0001252Hypotonia0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001252HP:0001252Hypotonia0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0001252HP:0001252Hypotonia0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0001252HP:0001252Hypotonia0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0001252HP:0001252Hypotonia0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040283 - Occasional87
HP:0001252HP:0001252Hypotonia0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency.108
HP:0001252HP:0001252Hypotonia0ALDH5A1 CL E G H7915408ORPHA:22Succinic semialdehyde dehydrogenase deficiencyHP:0040281 - Very frequent108
HP:0001252HP:0001252Hypotonia0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0001252HP:0001252Hypotonia0ALDH7A1 CL E G H501877OMIM:266100Epilepsy, pyridoxine-dependent.227
HP:0001252HP:0001252Hypotonia0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII50
HP:0001252HP:0001252Hypotonia0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040281 - Very frequent58
HP:0001252HP:0001252Hypotonia0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0001252HP:0001252Hypotonia0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDG41
HP:0001252HP:0001252Hypotonia0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip41
HP:0001252HP:0001252Hypotonia0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040282 - Frequent68
HP:0001252HP:0001252Hypotonia0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0001252HP:0001252Hypotonia0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDG96
HP:0001252HP:0001252Hypotonia0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0001252HP:0001252Hypotonia0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0001252HP:0001252Hypotonia0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0001252HP:0001252Hypotonia0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0001252HP:0001252Hypotonia0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0001252HP:0001252Hypotonia0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14HP:0040283 - Occasional46
HP:0001252HP:0001252Hypotonia0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040281 - Very frequent37
HP:0001252HP:0001252Hypotonia0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id37
HP:0001252HP:0001252Hypotonia0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040282 - Frequent66
HP:0001252HP:0001252Hypotonia0ALG6 CL E G H2992923157OMIM:603147Congenital disorder of glycosylation, type Ic66
HP:0001252HP:0001252Hypotonia0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040281 - Very frequent46
HP:0001252HP:0001252Hypotonia0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0001252HP:0001252Hypotonia0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040282 - Frequent93
HP:0001252HP:0001252Hypotonia0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0001252HP:0001252Hypotonia0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0001252HP:0001252Hypotonia0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0001252HP:0001252Hypotonia0AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040282 - Frequent2
HP:0001252HP:0001252Hypotonia0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0001252HP:0001252Hypotonia0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional25
HP:0001252HP:0001252Hypotonia0AMPD1 CL E G H270468OMIM:615511MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD62
HP:0001252HP:0001252Hypotonia0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 921
HP:0001252HP:0001252Hypotonia0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0001252HP:0001252Hypotonia0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001252HP:0001252Hypotonia0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040282 - Frequent176
HP:0001252HP:0001252Hypotonia0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0001252HP:0001252Hypotonia0ANO1 CL E G H5510721625OMIM:620045
HP:0001252HP:0001252Hypotonia0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0001252HP:0001252Hypotonia0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0001252HP:0001252Hypotonia0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0001252HP:0001252Hypotonia0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0001252HP:0001252Hypotonia0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.1
HP:0001252HP:0001252Hypotonia0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040281 - Very frequent13
HP:0001252HP:0001252Hypotonia0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0001252HP:0001252Hypotonia0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome13
HP:0001252HP:0001252Hypotonia0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0001252HP:0001252Hypotonia0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0001252HP:0001252Hypotonia0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0001252HP:0001252Hypotonia0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathy7
HP:0001252HP:0001252Hypotonia0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0001252HP:0001252Hypotonia0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent49
HP:0001252HP:0001252Hypotonia0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive49
HP:0001252HP:0001252Hypotonia0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent48
HP:0001252HP:0001252Hypotonia0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0001252HP:0001252Hypotonia0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent41
HP:0001252HP:0001252Hypotonia0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive41
HP:0001252HP:0001252Hypotonia0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent18
HP:0001252HP:0001252Hypotonia0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive18
HP:0001252HP:0001252Hypotonia0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0001252HP:0001252Hypotonia0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0001252HP:0001252Hypotonia0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0001252HP:0001252Hypotonia0AR CL E G H367644ORPHA:481Kennedy diseaseHP:0040281 - Very frequent125
HP:0001252HP:0001252Hypotonia0ARFGEF1 CL E G H1056515772OMIM:619964
HP:0001252HP:0001252Hypotonia0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0001252HP:0001252Hypotonia0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0001252HP:0001252Hypotonia0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0001252HP:0001252Hypotonia0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0001252HP:0001252Hypotonia0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040283 - Occasional219
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001252HP:0001252Hypotonia0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0001252HP:0001252Hypotonia0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0001252HP:0001252Hypotonia0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040281 - Very frequent62
HP:0001252HP:0001252Hypotonia0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0001252HP:0001252Hypotonia0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0001252HP:0001252Hypotonia0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0001252HP:0001252Hypotonia0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001252HP:0001252Hypotonia0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0001252HP:0001252Hypotonia0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0001252HP:0001252Hypotonia0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0001252HP:0001252Hypotonia0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0001252HP:0001252Hypotonia0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0001252HP:0001252Hypotonia0ARV1 CL E G H6480129561OMIM:617020Epileptic encephalopathy, early infantile, 383
HP:0001252HP:0001252Hypotonia0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001252HP:0001252Hypotonia0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent1
HP:0001252HP:0001252Hypotonia0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0001252HP:0001252Hypotonia0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0001252HP:0001252Hypotonia0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0001252HP:0001252Hypotonia0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0001252HP:0001252Hypotonia0ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0001252HP:0001252Hypotonia0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040282 - Frequent166
HP:0001252HP:0001252Hypotonia0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0001252HP:0001252Hypotonia0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0001252HP:0001252Hypotonia0ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040282 - Frequent15
HP:0001252HP:0001252Hypotonia0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0001252HP:0001252Hypotonia0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency17
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443756ORPHA:314918Mild Canavan diseaseHP:0040283 - Occasional48
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040281 - Very frequent48
HP:0001252HP:0001252Hypotonia0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0001252HP:0001252Hypotonia0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0001252HP:0001252Hypotonia0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0001252HP:0001252Hypotonia0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0001252HP:0001252Hypotonia0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001252HP:0001252Hypotonia0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome5
HP:0001252HP:0001252Hypotonia0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0001252HP:0001252Hypotonia0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0001252HP:0001252Hypotonia0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type.72
HP:0001252HP:0001252Hypotonia0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman type72
HP:0001252HP:0001252Hypotonia0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0001252HP:0001252Hypotonia0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency.4
HP:0001252HP:0001252Hypotonia0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0001252HP:0001252Hypotonia0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0001252HP:0001252Hypotonia0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0001252HP:0001252Hypotonia0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0001252HP:0001252Hypotonia0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathy239
HP:0001252HP:0001252Hypotonia0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0001252HP:0001252Hypotonia0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0001252HP:0001252Hypotonia0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathy150
HP:0001252HP:0001252Hypotonia0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0001252HP:0001252Hypotonia0ATP2B1 CL E G H490814OMIM:619910
HP:0001252HP:0001252Hypotonia0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 119
HP:0001252HP:0001252Hypotonia0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0001252HP:0001252Hypotonia0ATP5F1A CL E G H498823OMIM:616045Combined oxidative phosphorylation deficiency 22.
HP:0001252HP:0001252Hypotonia0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0001252HP:0001252Hypotonia0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001252HP:0001252Hypotonia0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic type140
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0001252HP:0001252Hypotonia0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic type3
HP:0001252HP:0001252Hypotonia0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0001252HP:0001252Hypotonia0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0001252HP:0001252Hypotonia0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001252HP:0001252Hypotonia0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0001252HP:0001252Hypotonia0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0001252HP:0001252Hypotonia0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0001252HP:0001252Hypotonia0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic type2
HP:0001252HP:0001252Hypotonia0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC2
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538869OMIM:309400Menkes disease192
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0001252HP:0001252Hypotonia0ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndromeHP:0040282 - Frequent
HP:0001252HP:0001252Hypotonia0ATP8A2 CL E G H5176113533ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent24
HP:0001252HP:0001252Hypotonia0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040282 - Frequent169
HP:0001252HP:0001252Hypotonia0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0001252HP:0001252Hypotonia0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0001252HP:0001252Hypotonia0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0001252HP:0001252Hypotonia0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0001252HP:0001252Hypotonia0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0001252HP:0001252Hypotonia0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0001252HP:0001252Hypotonia0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0001252HP:0001252Hypotonia0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 78
HP:0001252HP:0001252Hypotonia0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency61
HP:0001252HP:0001252Hypotonia0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent43
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1143
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent43
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0001252HP:0001252Hypotonia0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0001252HP:0001252Hypotonia0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDGHP:0040281 - Very frequent85
HP:0001252HP:0001252Hypotonia0B4GALT1 CL E G H2683924OMIM:607091Congenital disorder of glycosylation, type IID.85
HP:0001252HP:0001252Hypotonia0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0001252HP:0001252Hypotonia0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0001252HP:0001252Hypotonia0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0001252HP:0001252Hypotonia0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent17
HP:0001252HP:0001252Hypotonia0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040281 - Very frequent28
HP:0001252HP:0001252Hypotonia0B9D1 CL E G H2707724123OMIM:617120Joubert syndrome 2728
HP:0001252HP:0001252Hypotonia0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040281 - Very frequent34
HP:0001252HP:0001252Hypotonia0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0001252HP:0001252Hypotonia0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001252HP:0001252Hypotonia0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0001252HP:0001252Hypotonia0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0001252HP:0001252Hypotonia0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0001252HP:0001252Hypotonia0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0001252HP:0001252Hypotonia0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES3
HP:0001252HP:0001252Hypotonia0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001252HP:0001252Hypotonia0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0001252HP:0001252Hypotonia0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0001252HP:0001252Hypotonia0BCS1L CL E G H6171020OMIM:603358GRACILE SYNDROME72
HP:0001252HP:0001252Hypotonia0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001252HP:0001252Hypotonia0BDNF CL E G H6271033ORPHA:661Ondine syndromeHP:0040283 - Occasional5
HP:0001252HP:0001252Hypotonia0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant46
HP:0001252HP:0001252Hypotonia0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0001252HP:0001252Hypotonia0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0001252HP:0001252Hypotonia0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0001252HP:0001252Hypotonia0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0001252HP:0001252Hypotonia0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome
HP:0001252HP:0001252Hypotonia0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0001252HP:0001252Hypotonia0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040283 - Occasional13
HP:0001252HP:0001252Hypotonia0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0001252HP:0001252Hypotonia0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0001252HP:0001252Hypotonia0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0001252HP:0001252Hypotonia0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent385
HP:0001252HP:0001252Hypotonia0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0001252HP:0001252Hypotonia0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0001252HP:0001252Hypotonia0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0001252HP:0001252Hypotonia0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0001252HP:0001252Hypotonia0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0001252HP:0001252Hypotonia0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0001252HP:0001252Hypotonia0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0001252HP:0001252Hypotonia0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7.276
HP:0001252HP:0001252Hypotonia0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0001252HP:0001252Hypotonia0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal20
HP:0001252HP:0001252Hypotonia0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0001252HP:0001252Hypotonia0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis10
HP:0001252HP:0001252Hypotonia0BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0001252HP:0001252Hypotonia0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0001252HP:0001252Hypotonia0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent53
HP:0001252HP:0001252Hypotonia0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040282 - Frequent223
HP:0001252HP:0001252Hypotonia0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0001252HP:0001252Hypotonia0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0001252HP:0001252Hypotonia0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0001252HP:0001252Hypotonia0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0001252HP:0001252Hypotonia0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0001252HP:0001252Hypotonia0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001252HP:0001252Hypotonia0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0001252HP:0001252Hypotonia0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0001252HP:0001252Hypotonia0C18ORF32 CL E G H49766131690OMIM:619985
HP:0001252HP:0001252Hypotonia0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43114
HP:0001252HP:0001252Hypotonia0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0001252HP:0001252Hypotonia0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0001252HP:0001252Hypotonia0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001252HP:0001252Hypotonia0CA8 CL E G H7671382ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent8
HP:0001252HP:0001252Hypotonia0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0001252HP:0001252Hypotonia0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42449
HP:0001252HP:0001252Hypotonia0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathy449
HP:0001252HP:0001252Hypotonia0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0001252HP:0001252Hypotonia0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0001252HP:0001252Hypotonia0CACNA1C CL E G H7751390OMIM:620029572
HP:0001252HP:0001252Hypotonia0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome572
HP:0001252HP:0001252Hypotonia0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0001252HP:0001252Hypotonia0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits32
HP:0001252HP:0001252Hypotonia0CACNA1S CL E G H7791397OMIM:170400Hypokalemic periodic paralysis, type 1247
HP:0001252HP:0001252Hypotonia0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathy59
HP:0001252HP:0001252Hypotonia0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay48
HP:0001252HP:0001252Hypotonia0CAD CL E G H7901424OMIM:616457Epileptic encephalopathy, early infantile, 50.10
HP:0001252HP:0001252Hypotonia0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0001252HP:0001252Hypotonia0CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 631
HP:0001252HP:0001252Hypotonia0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001252HP:0001252Hypotonia0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0001252HP:0001252Hypotonia0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001252HP:0001252Hypotonia0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0001252HP:0001252Hypotonia0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0001252HP:0001252Hypotonia0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0001252HP:0001252Hypotonia0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001252HP:0001252Hypotonia0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001252HP:0001252Hypotonia0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0001252HP:0001252Hypotonia0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0001252HP:0001252Hypotonia0CASK CL E G H85731497OMIM:300422FG SYNDROME 4; FGS4118
HP:0001252HP:0001252Hypotonia0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0001252HP:0001252Hypotonia0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0001252HP:0001252Hypotonia0CASR CL E G H8461514ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent272
HP:0001252HP:0001252Hypotonia0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0001252HP:0001252Hypotonia0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040282 - Frequent317
HP:0001252HP:0001252Hypotonia0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0001252HP:0001252Hypotonia0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent247
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent247
HP:0001252HP:0001252Hypotonia0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0001252HP:0001252Hypotonia0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0001252HP:0001252Hypotonia0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0001252HP:0001252Hypotonia0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040281 - Very frequent33
HP:0001252HP:0001252Hypotonia0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0001252HP:0001252Hypotonia0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0001252HP:0001252Hypotonia0CCDC78 CL E G H12409314153OMIM:614807Myopathy, centronuclear, 4.25
HP:0001252HP:0001252Hypotonia0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome1
HP:0001252HP:0001252Hypotonia0CD59 CL E G H9661689OMIM:612300Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy.3
HP:0001252HP:0001252Hypotonia0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0001252HP:0001252Hypotonia0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0001252HP:0001252Hypotonia0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001252HP:0001252Hypotonia0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0001252HP:0001252Hypotonia0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0001252HP:0001252Hypotonia0CDC42BPB CL E G H95781738OMIM:619841
HP:0001252HP:0001252Hypotonia0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001252HP:0001252Hypotonia0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0001252HP:0001252Hypotonia0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0001252HP:0001252Hypotonia0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001252HP:0001252Hypotonia0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001252HP:0001252Hypotonia0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0001252HP:0001252Hypotonia0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2.405
HP:0001252HP:0001252Hypotonia0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0001252HP:0001252Hypotonia0CDKN1C CL E G H10281786ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent114
HP:0001252HP:0001252Hypotonia0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0001252HP:0001252Hypotonia0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0001252HP:0001252Hypotonia0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0001252HP:0001252Hypotonia0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0001252HP:0001252Hypotonia0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephaly200
HP:0001252HP:0001252Hypotonia0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001252HP:0001252Hypotonia0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001252HP:0001252Hypotonia0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040281 - Very frequent5
HP:0001252HP:0001252Hypotonia0CEP104 CL E G H973124866OMIM:616781Joubert syndrome 255
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040281 - Very frequent7
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 317
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent7
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent342
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H8018429021ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent342
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040281 - Very frequent90
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 15.90
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent90
HP:0001252HP:0001252Hypotonia0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0001252HP:0001252Hypotonia0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0001252HP:0001252Hypotonia0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0001252HP:0001252Hypotonia0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0001252HP:0001252Hypotonia0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0001252HP:0001252Hypotonia0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0001252HP:0001252Hypotonia0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0001252HP:0001252Hypotonia0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic65
HP:0001252HP:0001252Hypotonia0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0001252HP:0001252Hypotonia0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome2
HP:0001252HP:0001252Hypotonia0CHD1 CL E G H11051915OMIM:617682Pilarowski-Bjornsson syndrome2
HP:0001252HP:0001252Hypotonia0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0001252HP:0001252Hypotonia0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome2
HP:0001252HP:0001252Hypotonia0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0001252HP:0001252Hypotonia0CHD5 CL E G H2603816816OMIM:619873
HP:0001252HP:0001252Hypotonia0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0001252HP:0001252Hypotonia0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0001252HP:0001252Hypotonia0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0001252HP:0001252Hypotonia0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type53
HP:0001252HP:0001252Hypotonia0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0001252HP:0001252Hypotonia0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive
HP:0001252HP:0001252Hypotonia0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0001252HP:0001252Hypotonia0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0001252HP:0001252Hypotonia0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0001252HP:0001252Hypotonia0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.HP:0003623 - Neonatal onset53
HP:0001252HP:0001252Hypotonia0CHRNB1 CL E G H11401961OMIM:616314Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency.HP:0003623 - Neonatal onset53
HP:0001252HP:0001252Hypotonia0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel.HP:0003623 - Neonatal onset88
HP:0001252HP:0001252Hypotonia0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.HP:0003623 - Neonatal onset88
HP:0001252HP:0001252Hypotonia0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.88
HP:0001252HP:0001252Hypotonia0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel139
HP:0001252HP:0001252Hypotonia0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.HP:0003623 - Neonatal onset139
HP:0001252HP:0001252Hypotonia0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0001252HP:0001252Hypotonia0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001252HP:0001252Hypotonia0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0001252HP:0001252Hypotonia0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0001252HP:0001252Hypotonia0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0001252HP:0001252Hypotonia0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001252HP:0001252Hypotonia0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0001252HP:0001252Hypotonia0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0001252HP:0001252Hypotonia0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0001252HP:0001252Hypotonia0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0001252HP:0001252Hypotonia0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0001252HP:0001252Hypotonia0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent9
HP:0001252HP:0001252Hypotonia0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0001252HP:0001252Hypotonia0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent27
HP:0001252HP:0001252Hypotonia0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0001252HP:0001252Hypotonia0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001252HP:0001252Hypotonia0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 107
HP:0001252HP:0001252Hypotonia0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0001252HP:0001252Hypotonia0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia.HP:0003623 - Neonatal onset38
HP:0001252HP:0001252Hypotonia0CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0001252HP:0001252Hypotonia0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0001252HP:0001252Hypotonia0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001252HP:0001252Hypotonia0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0001252HP:0001252Hypotonia0CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040281 - Very frequent
HP:0001252HP:0001252Hypotonia0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathy18
HP:0001252HP:0001252Hypotonia0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis2
HP:0001252HP:0001252Hypotonia0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0001252HP:0001252Hypotonia0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0001252HP:0001252Hypotonia0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001252HP:0001252Hypotonia0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north40
HP:0001252HP:0001252Hypotonia0CNTNAP1 CL E G H85068011ORPHA:2680Hypomyelination neuropathy-arthrogryposis syndromeHP:0040281 - Very frequent9
HP:0001252HP:0001252Hypotonia0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0001252HP:0001252Hypotonia0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001252HP:0001252Hypotonia0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1518
HP:0001252HP:0001252Hypotonia0COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0001252HP:0001252Hypotonia0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001252HP:0001252Hypotonia0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0001252HP:0001252Hypotonia0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001252HP:0001252Hypotonia0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0001252HP:0001252Hypotonia0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj67
HP:0001252HP:0001252Hypotonia0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0001252HP:0001252Hypotonia0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0001252HP:0001252Hypotonia0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001252HP:0001252Hypotonia0COG7 CL E G H9194918622ORPHA:79333COG7-CDGHP:0040281 - Very frequent64
HP:0001252HP:0001252Hypotonia0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0001252HP:0001252Hypotonia0COG8 CL E G H8434218623ORPHA:95428COG8-CDG39
HP:0001252HP:0001252Hypotonia0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh.39
HP:0001252HP:0001252Hypotonia0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0001252HP:0001252Hypotonia0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0001252HP:0001252Hypotonia0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0001252HP:0001252Hypotonia0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0001252HP:0001252Hypotonia0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19.6
HP:0001252HP:0001252Hypotonia0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent373
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0001252HP:0001252Hypotonia0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040281 - Very frequent243
HP:0001252HP:0001252Hypotonia0COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0001252HP:0001252Hypotonia0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0001252HP:0001252Hypotonia0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita.284
HP:0001252HP:0001252Hypotonia0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent193
HP:0001252HP:0001252Hypotonia0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent660
HP:0001252HP:0001252Hypotonia0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0001252HP:0001252Hypotonia0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent325
HP:0001252HP:0001252Hypotonia0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1442
HP:0001252HP:0001252Hypotonia0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0001252HP:0001252Hypotonia0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0001252HP:0001252Hypotonia0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1478
HP:0001252HP:0001252Hypotonia0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0001252HP:0001252Hypotonia0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0001252HP:0001252Hypotonia0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1702
HP:0001252HP:0001252Hypotonia0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0001252HP:0001252Hypotonia0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0001252HP:0001252Hypotonia0COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3
HP:0001252HP:0001252Hypotonia0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0001252HP:0001252Hypotonia0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0001252HP:0001252Hypotonia0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent6
HP:0001252HP:0001252Hypotonia0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001252HP:0001252Hypotonia0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0001252HP:0001252Hypotonia0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0001252HP:0001252Hypotonia0COQ4 CL E G H5111719693OMIM:616276Coenzyme Q10 deficiency, primary, 7.HP:0003623 - Neonatal onset24
HP:0001252HP:0001252Hypotonia0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 81
HP:0001252HP:0001252Hypotonia0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040282 - Frequent136
HP:0001252HP:0001252Hypotonia0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4.136
HP:0001252HP:0001252Hypotonia0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0001252HP:0001252Hypotonia0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001252HP:0001252Hypotonia0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0001252HP:0001252Hypotonia0COX15 CL E G H13552263OMIM:615119Mitochondrial complex IV deficiency, nuclear type 6.104
HP:0001252HP:0001252Hypotonia0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0001252HP:0001252Hypotonia0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001252HP:0001252Hypotonia0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001252HP:0001252Hypotonia0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0001252HP:0001252Hypotonia0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0001252HP:0001252Hypotonia0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0001252HP:0001252Hypotonia0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 631
HP:0001252HP:0001252Hypotonia0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001252HP:0001252Hypotonia0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0001252HP:0001252Hypotonia0CPS1 CL E G H13732323ORPHA:147Carbamoyl-phosphate synthetase 1 deficiencyHP:0040281 - Very frequent124
HP:0001252HP:0001252Hypotonia0CPSF3 CL E G H516922326OMIM:619876
HP:0001252HP:0001252Hypotonia0CPT1A CL E G H13742328ORPHA:156Carnitine palmitoyl transferase 1A deficiencyHP:0040281 - Very frequent99
HP:0001252HP:0001252Hypotonia0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0001252HP:0001252Hypotonia0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0001252HP:0001252Hypotonia0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0001252HP:0001252Hypotonia0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8
HP:0001252HP:0001252Hypotonia0CRB1 CL E G H234182343ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent156
HP:0001252HP:0001252Hypotonia0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001252HP:0001252Hypotonia0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0001252HP:0001252Hypotonia0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0001252HP:0001252Hypotonia0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0001252HP:0001252Hypotonia0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0001252HP:0001252Hypotonia0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0001252HP:0001252Hypotonia0CRX CL E G H14062383ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent158
HP:0001252HP:0001252Hypotonia0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001252HP:0001252Hypotonia0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome12
HP:0001252HP:0001252Hypotonia0CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0001252HP:0001252Hypotonia0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040281 - Very frequent57
HP:0001252HP:0001252Hypotonia0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0001252HP:0001252Hypotonia0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0001252HP:0001252Hypotonia0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome2
HP:0001252HP:0001252Hypotonia0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001252HP:0001252Hypotonia0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001252HP:0001252Hypotonia0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0001252HP:0001252Hypotonia0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0001252HP:0001252Hypotonia0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 92
HP:0001252HP:0001252Hypotonia0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0001252HP:0001252Hypotonia0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndrome88
HP:0001252HP:0001252Hypotonia0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0001252HP:0001252Hypotonia0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0001252HP:0001252Hypotonia0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0001252HP:0001252Hypotonia0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional273
HP:0001252HP:0001252Hypotonia0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0001252HP:0001252Hypotonia0CUX1 CL E G H15232557OMIM:618330Global developmental delay with or without impaired intellectual development1
HP:0001252HP:0001252Hypotonia0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0001252HP:0001252Hypotonia0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0001252HP:0001252Hypotonia0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0001252HP:0001252Hypotonia0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0001252HP:0001252Hypotonia0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001252HP:0001252Hypotonia0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronism73
HP:0001252HP:0001252Hypotonia0CYP24A1 CL E G H15912602OMIM:143880Hypercalcemia, infantile, 1.73
HP:0001252HP:0001252Hypotonia0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent rickets41
HP:0001252HP:0001252Hypotonia0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0001252HP:0001252Hypotonia0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent rickets5
HP:0001252HP:0001252Hypotonia0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0001252HP:0001252Hypotonia0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1.102
HP:0001252HP:0001252Hypotonia0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0001252HP:0001252Hypotonia0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0001252HP:0001252Hypotonia0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent108
HP:0001252HP:0001252Hypotonia0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001252HP:0001252Hypotonia0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001252HP:0001252Hypotonia0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001252HP:0001252Hypotonia0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0001252HP:0001252Hypotonia0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040283 - Occasional80
HP:0001252HP:0001252Hypotonia0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0001252HP:0001252Hypotonia0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0001252HP:0001252Hypotonia0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0001252HP:0001252Hypotonia0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0001252HP:0001252Hypotonia0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0001252HP:0001252Hypotonia0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0001252HP:0001252Hypotonia0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0001252HP:0001252Hypotonia0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1145
HP:0001252HP:0001252Hypotonia0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0001252HP:0001252Hypotonia0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0001252HP:0001252Hypotonia0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR.62
HP:0001252HP:0001252Hypotonia0DDOST CL E G H16502728ORPHA:300536DDOST-CDG62
HP:0001252HP:0001252Hypotonia0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0001252HP:0001252Hypotonia0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0001252HP:0001252Hypotonia0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0001252HP:0001252Hypotonia0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndrome57
HP:0001252HP:0001252Hypotonia0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001252HP:0001252Hypotonia0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder33
HP:0001252HP:0001252Hypotonia0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0001252HP:0001252Hypotonia0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0001252HP:0001252Hypotonia0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 496
HP:0001252HP:0001252Hypotonia0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0001252HP:0001252Hypotonia0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0001252HP:0001252Hypotonia0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0001252HP:0001252Hypotonia0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001252HP:0001252Hypotonia0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001252HP:0001252Hypotonia0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
HP:0001252HP:0001252Hypotonia0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0001252HP:0001252Hypotonia0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathy47
HP:0001252HP:0001252Hypotonia0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 5947
HP:0001252HP:0001252Hypotonia0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0001252HP:0001252Hypotonia0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001252HP:0001252Hypotonia0DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0001252HP:0001252Hypotonia0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001252HP:0001252Hypotonia0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language4
HP:0001252HP:0001252Hypotonia0DIAPH1 CL E G H17292876OMIM:616632Seizures, cortical blindness, and microcephaly syndromeHP:0040283 - Occasional118
HP:0001252HP:0001252Hypotonia0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040281 - Very frequent164
HP:0001252HP:0001252Hypotonia0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0001252HP:0001252Hypotonia0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0001252HP:0001252Hypotonia0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0001252HP:0001252Hypotonia0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0001252HP:0001252Hypotonia0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephaly22
HP:0001252HP:0001252Hypotonia0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiency82
HP:0001252HP:0001252Hypotonia0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0001252HP:0001252Hypotonia0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency.89
HP:0001252HP:0001252Hypotonia0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiency89
HP:0001252HP:0001252Hypotonia0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0001252HP:0001252Hypotonia0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent1
HP:0001252HP:0001252Hypotonia0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0001252HP:0001252Hypotonia0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001252HP:0001252Hypotonia0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0001252HP:0001252Hypotonia0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent1
HP:0001252HP:0001252Hypotonia0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0001252HP:0001252Hypotonia0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0001252HP:0001252Hypotonia0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0001252HP:0001252Hypotonia0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0001252HP:0001252Hypotonia0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0001252HP:0001252Hypotonia0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0001252HP:0001252Hypotonia0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephaly3
HP:0001252HP:0001252Hypotonia0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0001252HP:0001252Hypotonia0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0001252HP:0001252Hypotonia0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0001252HP:0001252Hypotonia0DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0001252HP:0001252Hypotonia0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0001252HP:0001252Hypotonia0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0001252HP:0001252Hypotonia0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0001252HP:0001252Hypotonia0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0001252HP:0001252Hypotonia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001252HP:0001252Hypotonia0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31.72
HP:0001252HP:0001252Hypotonia0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathy72
HP:0001252HP:0001252Hypotonia0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0001252HP:0001252Hypotonia0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0001252HP:0001252Hypotonia0DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5.167
HP:0001252HP:0001252Hypotonia0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0001252HP:0001252Hypotonia0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0001252HP:0001252Hypotonia0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0001252HP:0001252Hypotonia0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0001252HP:0001252Hypotonia0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0001252HP:0001252Hypotonia0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0001252HP:0001252Hypotonia0DOHH CL E G H8347528662OMIM:620066
HP:0001252HP:0001252Hypotonia0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type ImHP:0040283 - Occasional55
HP:0001252HP:0001252Hypotonia0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0001252HP:0001252Hypotonia0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0001252HP:0001252Hypotonia0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0001252HP:0001252Hypotonia0DPH5 CL E G H5161124270OMIM:620070
HP:0001252HP:0001252Hypotonia0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0001252HP:0001252Hypotonia0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0001252HP:0001252Hypotonia0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0001252HP:0001252Hypotonia0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0001252HP:0001252Hypotonia0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0001252HP:0001252Hypotonia0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0001252HP:0001252Hypotonia0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001252HP:0001252Hypotonia0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 213
HP:0001252HP:0001252Hypotonia0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0001252HP:0001252Hypotonia0DTYMK CL E G H18413061OMIM:619847
HP:0001252HP:0001252Hypotonia0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional121
HP:0001252HP:0001252Hypotonia0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidismHP:0040284 - Very rare121
HP:0001252HP:0001252Hypotonia0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional11
HP:0001252HP:0001252Hypotonia0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0001252HP:0001252Hypotonia0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13.427
HP:0001252HP:0001252Hypotonia0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0001252HP:0001252Hypotonia0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0001252HP:0001252Hypotonia0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0001252HP:0001252Hypotonia0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001252HP:0001252Hypotonia0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0001252HP:0001252Hypotonia0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0001252HP:0001252Hypotonia0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0001252HP:0001252Hypotonia0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency.33
HP:0001252HP:0001252Hypotonia0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0001252HP:0001252Hypotonia0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0001252HP:0001252Hypotonia0EDN3 CL E G H19083178ORPHA:661Ondine syndromeHP:0040283 - Occasional67
HP:0001252HP:0001252Hypotonia0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0001252HP:0001252Hypotonia0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0001252HP:0001252Hypotonia0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 33.HP:0003623 - Neonatal onset60
HP:0001252HP:0001252Hypotonia0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.HP:0003623 - Neonatal onset60
HP:0001252HP:0001252Hypotonia0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathy60
HP:0001252HP:0001252Hypotonia0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0001252HP:0001252Hypotonia0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 21
HP:0001252HP:0001252Hypotonia0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0001252HP:0001252Hypotonia0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0001252HP:0001252Hypotonia0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0001252HP:0001252Hypotonia0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive58
HP:0001252HP:0001252Hypotonia0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0001252HP:0001252Hypotonia0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040281 - Very frequent223
HP:0001252HP:0001252Hypotonia0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040284 - Very rare223
HP:0001252HP:0001252Hypotonia0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0001252HP:0001252Hypotonia0EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0001252HP:0001252Hypotonia0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001252HP:0001252Hypotonia0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0001252HP:0001252Hypotonia0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0001252HP:0001252Hypotonia0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0001252HP:0001252Hypotonia0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0001252HP:0001252Hypotonia0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0001252HP:0001252Hypotonia0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040282 - Frequent8
HP:0001252HP:0001252Hypotonia0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0001252HP:0001252Hypotonia0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0001252HP:0001252Hypotonia0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001252HP:0001252Hypotonia0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0001252HP:0001252Hypotonia0ELAC2 CL E G H6052814198OMIM:615440Combined oxidative phosphorylation deficiency 17.67
HP:0001252HP:0001252Hypotonia0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001252HP:0001252Hypotonia0ELN CL E