Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:618857 | DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3 | | | | 245 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACACA CL E G H | 31 | 84 | OMIM:613933 | Acetyl-CoA carboxylase deficiency | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | . | | | 98 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACADM CL E G H | 34 | 89 | OMIM:201450 | Acyl-Coa dehydrogenase, medium-chain, deficiency of | . | | | 197 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACADS CL E G H | 35 | 90 | OMIM:201470 | Acyl-Coa dehydrogenase, short-chain, deficiency of | . | | | 90 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACADSB CL E G H | 36 | 91 | OMIM:610006 | 2-Methylbutyryl-Coa dehydrogenase deficiency | . | | | 111 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACAT2 CL E G H | 39 | 94 | OMIM:614055 | Acetyl-Coa acetyltransferase-2 deficiency | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97244 | Rigid spine syndrome | HP:0040281 - Very frequent | | | 96 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:618654 | MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ | | | | 307 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ACY1 CL E G H | 95 | 177 | OMIM:609924 | Aminoacylase 1 deficiency | . | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ADCY6 CL E G H | 112 | 237 | OMIM:616287 | Lethal congenital contracture syndrome 8 | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | . | | | 47 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ADSL CL E G H | 158 | 291 | ORPHA:46 | Adenylosuccinate lyase deficiency | HP:0040281 - Very frequent | | | 118 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040281 - Very frequent | | | 60 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALAD CL E G H | 210 | 395 | OMIM:612740 | Porphyria, acute hepatic | . | | | 62 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | . | | | 89 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALDH5A1 CL E G H | 7915 | 408 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | | | | 108 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | . | | | 35 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | . | | | 58 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALG13 CL E G H | 79868 | 30881 | ORPHA:324422 | ALG13-CDG | HP:0040282 - Frequent | | | 96 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 46 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | HP:0040283 - Occasional | | | 46 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | HP:0040284 - Very rare | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AMT CL E G H | 275 | 473 | OMIM:605899 | Glycine encephalopathy | . | | | 56 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ANK3 CL E G H | 288 | 494 | OMIM:615493 | Mental retardation, autosomal recessive 37 | . | | | 176 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85329 | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AP2M1 CL E G H | 1173 | 564 | OMIM:618587 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040283 - Occasional | | | 3179 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | . | | | 179 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | . | | | 147 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | . | | | 25 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARSA CL E G H | 410 | 713 | OMIM:250100 | Metachromatic leukodystrophy | . | | | 253 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 253 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 253 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 253 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARV1 CL E G H | 64801 | 29561 | OMIM:617020 | Epileptic encephalopathy, early infantile, 38 | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATCAY CL E G H | 85300 | 779 | ORPHA:94122 | Cerebellar ataxia, Cayman type | HP:0040282 - Frequent | | | 72 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATIC CL E G H | 471 | 794 | OMIM:608688 | Aicar transformylase/imp cyclohydrolase deficiency | . | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 239 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | | | | 150 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 150 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040284 - Very rare | | | 150 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP5F1A CL E G H | 498 | 823 | OMIM:616045 | Combined oxidative phosphorylation deficiency 22 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | . | | | 140 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | HP:0040283 - Occasional | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040283 - Occasional | | | 19 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | HP:0040283 - Occasional | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040282 - Frequent | | | 61 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | . | | | 38 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | B4GALT1 CL E G H | 2683 | 924 | OMIM:607091 | Congenital disorder of glycosylation, type IID | . | | | 85 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | B9D1 CL E G H | 27077 | 24123 | OMIM:617120 | Joubert syndrome 27 | . | | | 28 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BCKDHA CL E G H | 593 | 986 | OMIM:248600 | Maple syrup urine disease | . | | | 120 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BCKDHB CL E G H | 594 | 987 | OMIM:248600 | Maple syrup urine disease | . | | | 162 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BMP1 CL E G H | 649 | 1067 | OMIM:614856 | Osteogenesis imperfecta, type XIII | HP:0040283 - Occasional | | | 49 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 385 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | . | | | 14 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | . | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | C12ORF4 CL E G H | 57102 | 1184 | OMIM:618221 | Mental retardation, autosomal recessive 66 | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | HP:0040282 - Frequent | | | 114 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:617106 | Epileptic encephalopathy, early infantile, 42 | . | | | 449 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 449 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | HP:0040283 - Occasional | | | 572 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 59 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CACNA2D2 CL E G H | 9254 | 1400 | OMIM:618501 | Cerebellar atrophy with seizures and variable developmental delay | | | | 48 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | . | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CCDC22 CL E G H | 28952 | 28909 | OMIM:300963 | Ritscher-Schinzel syndrome 2 | . | | | 33 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CD59 CL E G H | 966 | 1689 | OMIM:612300 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CEP104 CL E G H | 9731 | 24866 | OMIM:616781 | Joubert syndrome 25 | | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:617761 | Joubert syndrome 31 | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CEP41 CL E G H | 95681 | 12370 | OMIM:614464 | Joubert syndrome 15 | . | | | 90 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | | | | 65 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CHD1 CL E G H | 1105 | 1915 | ORPHA:529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CHD1 CL E G H | 1105 | 1915 | OMIM:617682 | Pilarowski-Bjornsson syndrome | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | . | | | 19 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | . | | | 45 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | . | | | 102 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CLP1 CL E G H | 10978 | 16999 | ORPHA:411493 | Pontocerebellar hypoplasia type 10 | HP:0040282 - Frequent | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 18 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:619033 | VISSERS-BODMER SYNDROME; VIBOS | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CNOT2 CL E G H | 4848 | 7878 | OMIM:618608 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | . | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CNTNAP2 CL E G H | 26047 | 13830 | OMIM:610042 | Pitt-Hopkins-Like syndrome 1 | . | | | 518 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | . | | | 67 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616471 | Bethlem myopathy 2 | | | | 65 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 65 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL13A1 CL E G H | 1305 | 2190 | OMIM:616720 | Myasthenic syndrome, congenital, 19 | . | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:619115 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1 | | | | 373 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:130060 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | . | | | 373 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:619120 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2 | | | | 243 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:617821 | Ehlers-Danlos syndrome, arthrochalasia type, 2 | . | | | 243 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | . | | | 284 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 442 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 478 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 702 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COLGALT1 CL E G H | 79709 | 26182 | OMIM:618360 | Brain small vessel disease 3 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COQ8A CL E G H | 56997 | 16812 | OMIM:612016 | Coenzyme Q10 deficiency, primary, 4 | . | | | 136 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COQ9 CL E G H | 57017 | 25302 | OMIM:614654 | Coenzyme Q10 deficiency, primary, 5 | . | | | 44 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COX15 CL E G H | 1355 | 2263 | OMIM:615119 | Mitochondrial complex IV deficiency, nuclear type 6 | . | | | 104 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COX6A2 CL E G H | 1339 | 2279 | OMIM:619062 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:617976 | Epileptic encephalopathy, early infantile, 63 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | . | | | 99 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040283 - Occasional | | | 101 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | . | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CSNK2B CL E G H | 1460 | 2460 | OMIM:618732 | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | . | | | 57 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 57 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:617915 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CTNNA2 CL E G H | 1496 | 2510 | OMIM:618174 | Cortical dysplasia, complex, with other brain malformations 9 | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | . | | | 38 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CUX1 CL E G H | 1523 | 2557 | OMIM:618330 | Global developmental delay with or without impaired intellectual development | HP:0040284 - Very rare | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CYFIP2 CL E G H | 26999 | 13760 | OMIM:618008 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65 | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040282 - Frequent | | | 73 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CYP24A1 CL E G H | 1591 | 2602 | OMIM:143880 | Hypercalcemia, infantile, 1 | . | | | 73 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040282 - Frequent | | | 41 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040282 - Frequent | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DALRD3 CL E G H | 55152 | 25536 | OMIM:618910 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DBT CL E G H | 1629 | 2698 | OMIM:248600 | Maple syrup urine disease | . | | | 156 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DCPS CL E G H | 28960 | 29812 | OMIM:616459 | Al-Raqad syndrome | . | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DDOST CL E G H | 1650 | 2728 | ORPHA:300536 | DDOST-CDG | HP:0040281 - Very frequent | | | 62 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | . | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DDX3X CL E G H | 1654 | 2745 | ORPHA:457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:617171 | Dyskinesia, seizures, and intellectual developmental disorder | . | | | 33 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:617836 | Developmental delay and seizures with or without movement abnormalities | | | | 47 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 47 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | . | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DIAPH1 CL E G H | 1729 | 2876 | OMIM:616632 | Seizures, cortical blindness, and microcephaly syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DNAJC12 CL E G H | 56521 | 28908 | OMIM:617384 | Hyperphenylalaninemia, MILD, non-bh4-deficient | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DNM1 CL E G H | 1759 | 2972 | OMIM:616346 | Epileptic encephalopathy, early infantile, 31 | . | | | 72 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 72 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | . | | | 167 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | . | | | 18 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | . | | | 38 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 38 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | | | | 26 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040282 - Frequent | | | 26 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | . | | | 51 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | . | | | 33 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | . | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | . | | | 45 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | . | | | 223 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 42 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 24 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 32 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 38 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 48 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ELAC2 CL E G H | 60528 | 14198 | OMIM:615440 | Combined oxidative phosphorylation deficiency 17 | . | | | 67 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | . | | | 172 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | . | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:613684 | Rubinstein-Taybi syndrome 2 | . | | | 250 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | HP:0040282 - Frequent | | | 42 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | . | | | 38 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:616682 | Seizures, scoliosis, and macrocephaly/microcephaly syndrome | . | | | 102 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FASTKD2 CL E G H | 22868 | 29160 | OMIM:618855 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44 | | | | 122 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FBP1 CL E G H | 2203 | 3606 | OMIM:229700 | Fructose-1,6-Bisphosphatase deficiency | . | | | 64 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | HP:0040282 - Frequent | | | 157 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | . | | | 184 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FLAD1 CL E G H | 80308 | 24671 | OMIM:255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | . | | | 18 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FMN2 CL E G H | 56776 | 14074 | OMIM:616193 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47 | | | | 44 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FRA16E CL E G H | 2464 | 3861 | OMIM:136570 | Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | . | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABRB1 CL E G H | 2560 | 4081 | OMIM:617153 | Epileptic encephalopathy, early infantile, 45 | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 44 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABRB3 CL E G H | 2562 | 4083 | OMIM:617113 | Epileptic encephalopathy, early infantile, 43 | . | | | 57 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABRG2 CL E G H | 2566 | 4087 | OMIM:618396 | Epileptic encephalopathy, early infantile, 74 | . | | | 139 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 139 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GALE CL E G H | 2582 | 4116 | OMIM:230350 | Galactose epimerase deficiency | . | | | 52 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040281 - Very frequent | | | 121 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:619042 | SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | . | | | 86 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | . | | | 115 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GCSH CL E G H | 2653 | 4208 | OMIM:605899 | Glycine encephalopathy | . | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363717 | Alexander disease type I | | | | 188 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 128 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GLDC CL E G H | 2731 | 4313 | OMIM:605899 | Glycine encephalopathy | . | | | 166 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | HP:0040283 - Occasional | | | 17 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 34 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | . | | | 36 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GNB1 CL E G H | 2782 | 4396 | ORPHA:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GNB5 CL E G H | 10681 | 4401 | OMIM:617173 | Intellectual developmental disorder with cardiac arrhythmia | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GNPAT CL E G H | 8443 | 4416 | OMIM:222765 | Rhizomelic chondrodysplasia punctata, type 2 | . | | | 58 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | . | | | 18 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040282 - Frequent | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GRID2 CL E G H | 2895 | 4576 | ORPHA:363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GRIN2B CL E G H | 2904 | 4586 | OMIM:613970 | Mental retardation, autosomal dominant 6, with or without seizures | . | | | 274 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | GTPBP3 CL E G H | 84705 | 14880 | OMIM:616198 | Combined oxidative phosphorylation deficiency 23 | . | | | 30 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | . | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | . | | | 41 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HCFC1 CL E G H | 3054 | 4839 | OMIM:309541 | Methylmalonic acidemia and homocysteinemia, Cblx type | . | | | 100 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:613926 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation | . | | | 82 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | . | | | 38 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HIBCH CL E G H | 26275 | 4908 | OMIM:250620 | 3-Hydroxyisobutyryl-Coa hydrolase deficiency | . | | | 32 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HIKESHI CL E G H | 51501 | 26938 | OMIM:616881 | Leukodystrophy, hypomyelinating, 13 | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | . | | | 8 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HNRNPU CL E G H | 3192 | 5048 | OMIM:617391 | Epileptic encephalopathy, early infantile, 54 | . | | | 39 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | . | | | 19 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:612233 | Leukodystrophy, hypomyelinating, 4 | . | | | 46 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | . | | | 39 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | . | | | 28 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:616489 | Growth restriction, severe, with distinctive facies | . | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | IQSEC1 CL E G H | 9922 | 29112 | OMIM:618687 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | IQSEC2 CL E G H | 23096 | 29059 | OMIM:309530 | Mental retardation, X-linked 1 | . | | | 119 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ISCA2 CL E G H | 122961 | 19857 | OMIM:616370 | Multiple mitochondrial dysfunctions syndrome 4 | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:206700 | Gillespie syndrome | | | | 177 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | HP:0040282 - Frequent | | | 177 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:603736 | Ohdo syndrome, sbbys variant | . | | | 141 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040282 - Frequent | | | 17 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:617643 | Cerebellar atrophy, developmental delay, and seizures | . | | | 114 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNMA1 CL E G H | 3778 | 6284 | ORPHA:79137 | Generalized epilepsy-paroxysmal dyskinesia syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:609446 | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | HP:0040284 - Very rare | | | 114 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:613720 | Epileptic encephalopathy, early infantile, 7 | . | | | 528 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | . | | | 321 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KCNT2 CL E G H | 343450 | 18866 | OMIM:617771 | Epileptic encephalopathy, early infantile, 57 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 24 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:617914 | Microcephaly 20, primary, autosomal recessive | . | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | HP:0040283 - Occasional | | | 276 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | . | | | 14 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:617235 | Myoclonus, intractable, neonatal | . | | | 93 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 167 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KMT2C CL E G H | 58508 | 13726 | OMIM:617768 | Kleefstra syndrome 2 | HP:0040284 - Very rare | | | 99 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LIAS CL E G H | 11019 | 16429 | OMIM:614462 | Hyperglycinemia, lactic acidosis, and seizures | . | | | 31 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | . | | | 46 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | . | | | 11 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LNPK CL E G H | 80856 | 21610 | OMIM:618090 | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:259770 | Osteoporosis-Pseudoglioma syndrome | . | | | 125 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040283 - Occasional | | | 191 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | . | | | 191 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | HP:0040282 - Frequent | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MANBA CL E G H | 4126 | 6831 | OMIM:248510 | MANNOSIDOSIS, BETA A, LYSOSOMAL | . | | | 55 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:617760 | Myopathy, centronuclear, 6, with fiber-type disproportion | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | . | | | 25 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MAST1 CL E G H | 22983 | 19034 | OMIM:618273 | Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MBOAT7 CL E G H | 79143 | 15505 | OMIM:617188 | Mental retardation, autosomal recessive 57 | . | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | . | | | 81 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MCOLN1 CL E G H | 57192 | 13356 | OMIM:252650 | Mucolipidosis IV | . | | | 78 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | . | | | 228 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | . | | | 74 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | METTL5 CL E G H | 29081 | 25006 | OMIM:618665 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MIPEP CL E G H | 4285 | 7104 | OMIM:617228 | Combined oxidative phosphorylation deficiency 31 | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MITF CL E G H | 4286 | 7105 | OMIM:617306 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | . | | | 91 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MLYCD CL E G H | 23417 | 7150 | OMIM:248360 | Malonyl-CoA decarboxylase deficiency | | | | 80 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | . | | | 50 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | . | | | 37 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040284 - Very rare | | | 8 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | . | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | . | | | 51 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040282 - Frequent | | | 532 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MRPS22 CL E G H | 56945 | 14508 | OMIM:611719 | Combined oxidative phosphorylation deficiency 5 | . | | | 25 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MRPS28 CL E G H | 28957 | 14513 | OMIM:618958 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MTFMT CL E G H | 123263 | 29666 | OMIM:614947 | Combined oxidative phosphorylation deficiency 15 | HP:0040283 - Occasional | | | 29 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | HP:0040281 - Very frequent | | | 185 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MTO1 CL E G H | 25821 | 19261 | OMIM:614702 | Combined oxidative phosphorylation deficiency 10 | . | | | 39 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MTR CL E G H | 4548 | 7468 | OMIM:250940 | Homocystinuria-megaloblastic anemia, cblg Complementation type | . | | | 217 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MTRR CL E G H | 4552 | 7473 | OMIM:236270 | Homocystinuria-megaloblastic anemia, cbl E type | . | | | 88 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MYH2 CL E G H | 4620 | 7572 | OMIM:605637 | Myopathy, proximal, and ophthalmoplegia | | | | 105 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 1269 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | HP:0040281 - Very frequent | | | 35 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609241 | Schindler disease, type I | . | | | 47 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619091 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFA10 CL E G H | 4705 | 7684 | OMIM:618243 | Mitochondrial complex I deficiency, nuclear type 22 | . | | | 91 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | . | | | 32 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFA13 CL E G H | 51079 | 17194 | OMIM:618249 | Mitochondrial complex I deficiency, nuclear type 28 | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFAF2 CL E G H | 91942 | 28086 | OMIM:618233 | Mitochondrial complex I deficiency, nuclear type 10 | . | | | 26 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | . | | | 50 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | . | | | 34 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFB3 CL E G H | 4709 | 7698 | OMIM:618246 | Mitochondrial complex I deficiency, nuclear type 25 | . | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFB8 CL E G H | 4714 | 7703 | OMIM:618252 | Mitochondrial complex I deficiency, nuclear type 32 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | . | | | 81 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | . | | | 22 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFS7 CL E G H | 374291 | 7714 | OMIM:618224 | Mitochondrial complex I deficiency, nuclear type 3 | . | | | 38 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NDUFV2 CL E G H | 4729 | 7717 | OMIM:618229 | Mitochondrial complex I deficiency, nuclear type 7 | . | | | 27 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NECAP1 CL E G H | 25977 | 24539 | OMIM:615833 | Epileptic encephalopathy, early infantile, 21 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NEMF CL E G H | 9147 | 10663 | OMIM:619099 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | . | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | . | | | 51 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NOVA2 CL E G H | 4858 | 7887 | OMIM:618859 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | . | | | 258 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | . | | | 85 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | HP:0040280 - Obligate | | | 102 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NRXN1 CL E G H | 9378 | 8008 | OMIM:614325 | Pitt-Hopkins-Like syndrome 2 | . | | | 470 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | . | | | 34 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NTRK2 CL E G H | 4915 | 8032 | OMIM:617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58 | | | | 8 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 8 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618349 | Galloway-Mowat syndrome 8 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NUS1 CL E G H | 116150 | 21042 | OMIM:617082 | Congenital disorder of glycosylation, type IAA | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 201 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | . | | | 41 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | OXR1 CL E G H | 55074 | 15822 | OMIM:213000 | Cerebellar hypoplasia | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | . | | | 24 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PAK1 CL E G H | 5058 | 8590 | OMIM:618158 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PCBD1 CL E G H | 5092 | 8646 | OMIM:264070 | Hyperphenylalaninemia, BH4-deficient, D | | | | 24 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PDHB CL E G H | 5162 | 8808 | OMIM:614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | | | | 37 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PDP1 CL E G H | 54704 | 9279 | OMIM:608782 | Pyruvate dehydrogenase phosphatase deficiency | . | | | 52 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | . | | | 169 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | . | | | 65 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | . | | | 65 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614885 | Peroxisome biogenesis disorder 11B | . | | | 66 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX14 CL E G H | 5195 | 8856 | OMIM:614887 | Peroxisome biogenesis disorder 13A (Zellweger) | . | | | 46 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | . | | | 59 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | . | | | 47 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | . | | | 98 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | . | | | 8 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PGAP3 CL E G H | 93210 | 23719 | OMIM:615716 | Hyperphosphatasia with mental retardation syndrome 4 | . | | | 20 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | . | | | 15 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PHF21A CL E G H | 51317 | 24156 | OMIM:618725 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | . | | | 29 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | . | | | 11 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | . | | | 77 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIGG CL E G H | 54872 | 25985 | OMIM:616917 | Mental retardation, autosomal recessive 53 | | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | . | | | 57 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:602501 | Megalencephaly-Capillary malformation-polymicrogyria syndrome | . | | | 162 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | . | | | 133 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PLEKHG2 CL E G H | 64857 | 29515 | OMIM:616763 | Leukodystrophy and acquired microcephaly with or without dystonia | | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | | | | 11 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | HP:0040282 - Frequent | | | 79 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PMPCA CL E G H | 23203 | 18667 | OMIM:213200 | Spinocerebellar ataxia, autosomal recessive 2 | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040282 - Frequent | | | 60 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | HP:0040283 - Occasional | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | HP:0040283 - Occasional | | | 45 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:614830 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | . | | | 33 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | HP:0003577 - Congenital onset | | 221 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PPP2R5D CL E G H | 5528 | 9312 | OMIM:616355 | Mental retardation, autosomal dominant 35 | . | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619761 | CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PREPL CL E G H | 9581 | 30228 | OMIM:616224 | Myasthenic syndrome, congenital, 22 | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PRKCG CL E G H | 5582 | 9402 | ORPHA:98763 | Spinocerebellar ataxia type 14 | HP:0040282 - Frequent | | | 83 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PRODH CL E G H | 5625 | 9453 | OMIM:239500 | Hyperprolinemia, type I | . | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | . | | | 81 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 81 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 81 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 81 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PTCHD1 CL E G H | 139411 | 26392 | OMIM:300830 | Autism, susceptibility to, X-linked 4 | HP:0040283 - Occasional | | | 34 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 948 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | HP:0040284 - Very rare | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | REPS1 CL E G H | 85021 | 15578 | OMIM:617916 | Neurodegeneration with brain iron accumulation 7 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | . | | | 16 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | . | | | 92 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | . | | | 60 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | | | | 90 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:619113 | COACH SYNDROME 3; COACH3 | | | | 167 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | . | | | 125 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | HP:0040283 - Occasional | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:324581 | Benign Samaritan congenital myopathy | HP:0040281 - Very frequent | | | 1200 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040282 - Frequent | | | 1200 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | . | | | 80 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:617350 | Epileptic encephalopathy, early infantile, 52 | . | | | 126 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617938 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62 | | | | 70 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 70 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614306 | Cognitive impairment with or without cerebellar ataxia | HP:0040284 - Very rare | | | 357 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 357 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 304 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 129 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | . | | | 144 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:97244 | Rigid spine syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | . | | | 52 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | . | | | 60 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SFXN4 CL E G H | 119559 | 16088 | OMIM:615578 | Combined oxidative phosphorylation deficiency 18 | . | | | 17 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SGCE CL E G H | 8910 | 10808 | OMIM:159900 | Dystonia 11, myoclonic | HP:0040283 - Occasional | | | 49 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | . | | | 150 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619083 | DELPIRE-MCNEILL SYNDROME; DELMNES | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC13A3 CL E G H | 64849 | 14430 | OMIM:618384 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC13A5 CL E G H | 284111 | 23089 | OMIM:615905 | Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta | . | | | 73 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:604369 | Salla disease | . | | | 78 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC18A3 CL E G H | 6572 | 10936 | OMIM:617239 | Myasthenic syndrome, congenital, 21, presynaptic | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | . | | | 63 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC25A10 CL E G H | 1468 | 10980 | OMIM:618972 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | . | | | 40 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | HP:0040283 - Occasional | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:617184 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | . | | | 68 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC25A42 CL E G H | 284439 | 28380 | OMIM:618416 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | . | | | 14 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | . | | | 24 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC35A3 CL E G H | 23443 | 11023 | OMIM:615553 | Arthrogryposis, mental retardation, and seizures | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | . | | | 71 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC45A1 CL E G H | 50651 | 17939 | OMIM:617532 | Intellectual developmental disorder with neuropsychiatric features | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SLC9A7 CL E G H | 84679 | 17123 | OMIM:301024 | Intellectual developmental disorder, X-linked 108 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | . | | | 617 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | | | | 22 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | . | | | 37 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SOX4 CL E G H | 6659 | 11200 | OMIM:618506 | Coffin-Siris syndrome 10 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SOX5 CL E G H | 6660 | 11201 | OMIM:616803 | Lamb-Shaffer syndrome | . | | | 11 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040282 - Frequent | | | 66 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 20 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SPEG CL E G H | 10290 | 16901 | OMIM:615959 | Myopathy, centronuclear, 5 | . | | | 20 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | . | | | 136 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | . | | | 416 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | HP:0040283 - Occasional | | | 126 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SSR4 CL E G H | 6748 | 11326 | OMIM:300934 | Congenital disorder of glycosylation, type Iy | . | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | HP:0040280 - Obligate | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ST3GAL3 CL E G H | 6487 | 10866 | OMIM:615006 | Epileptic encephalopathy, early infantile, 15 | . | | | 41 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:521258 | Xq25 microduplication syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | . | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | STT3A CL E G H | 3703 | 6172 | ORPHA:370921 | STT3A-CDG | HP:0040280 - Obligate | | | 21 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | STT3B CL E G H | 201595 | 30611 | ORPHA:370924 | STT3B-CDG | HP:0040280 - Obligate | | | 18 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | . | | | 124 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | . | | | 40 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | . | | | 1129 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:617389 | Epileptic encephalopathy, early infantile, 53 | . | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SZT2 CL E G H | 23334 | 29040 | OMIM:615476 | Epileptic encephalopathy, early infantile, 18 | . | | | 123 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 123 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TANC2 CL E G H | 26115 | 30212 | OMIM:618906 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | . | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | . | | | 271 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TBR1 CL E G H | 10716 | 11590 | OMIM:606053 | Intellectual developmental disorder with autism and speech delay | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | . | | | 76 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 31 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TDP2 CL E G H | 51567 | 17768 | ORPHA:404493 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | HP:0040282 - Frequent | | | 39 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | . | | | 39 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TELO2 CL E G H | 9894 | 29099 | OMIM:616954 | You-Hoover-Fong syndrome | . | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040284 - Very rare | | | 80 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040281 - Very frequent | | | 103 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TMEM199 CL E G H | 147007 | 18085 | OMIM:616829 | Congenital disorder of glycosylation, type IIP | HP:0040283 - Occasional | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 45 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TMEM63A CL E G H | 9725 | 29118 | OMIM:618688 | LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | . | | | 166 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | HP:0040284 - Very rare | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 61 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | . | | | 47 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | . | | | 28 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | . | | | 54 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRIM2 CL E G H | 23321 | 15974 | OMIM:615490 | Charcot-Marie-Tooth disease, axonal, type 2R | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | . | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | . | | | 12 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | . | | | 3 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040281 - Very frequent | | | 101 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | . | | | 43 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040284 - Very rare | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TUBA1A CL E G H | 7846 | 20766 | OMIM:611603 | Lissencephaly 3 | . | | | 106 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | HP:0040283 - Occasional | | | 14 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TUBB2A CL E G H | 7280 | 12412 | OMIM:615763 | Cortical dysplasia, complex, with other brain malformations 5 | . | | | 23 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040283 - Occasional | | | 35 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | . | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | . | | | 278 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | . | | | 13 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UFM1 CL E G H | 51569 | 20597 | OMIM:617899 | Leukodystrophy, hypomyelinating, 14 | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | . | | | 23 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UQCC3 CL E G H | 790955 | 34399 | OMIM:616111 | Mitochondrial complex III deficiency, nuclear type 9 | . | | | 6 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | UQCRQ CL E G H | 27089 | 29594 | OMIM:615159 | Mitochondrial complex III deficiency, nuclear type 4 | . | | | 34 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | . | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | . | | | 111 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | . | | | 20 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 199 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 149 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | YIF1B CL E G H | 90522 | 30511 | OMIM:619125 | KAYA-BARAKAT-MASSON SYNDROME; KABAMAS | | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | YME1L1 CL E G H | 10730 | 12843 | OMIM:617302 | Optic atrophy 11 | HP:0040283 - Occasional | | | 2 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | . | | | 16 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | | | | 5 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | . | | | 1 | | |
HP:0001290 | HP:0001290 | Generalized hypotonia | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |
HP:0001290 | HP:0006852 | Episodic generalized hypotonia | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | . | | | 150 | | |
HP:0001290 | HP:0003397 | Generalized hypotonia due to defect at the neuromuscular junction | 1 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0001290 | HP:0003397 | Generalized hypotonia due to defect at the neuromuscular junction | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0001290 | HP:0006852 | Episodic generalized hypotonia | 1 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | | | | 63 | | |