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:0001263 | HP:0001263 | Global developmental delay | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABAT CL E G H | 18 | 23 | OMIM:613163 | GABA-transaminase deficiency | . | | | 120 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCB7 CL E G H | 22 | 48 | ORPHA:2802 | X-linked sideroblastic anemia and spinocerebellar ataxia | HP:0040282 - Frequent | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 415 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:79134 | DEND syndrome | | | | 245 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 245 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | HP:0040283 - Occasional | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ABL1 CL E G H | 25 | 76 | OMIM:617602 | Congenital heart defects and skeletal malformations syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACAD8 CL E G H | 27034 | 87 | ORPHA:79159 | Isobutyryl-CoA dehydrogenase deficiency | | | | 58 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACADM CL E G H | 34 | 89 | OMIM:201450 | Acyl-Coa dehydrogenase, medium-chain, deficiency of | . | | | 197 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACADS CL E G H | 35 | 90 | OMIM:201470 | Acyl-Coa dehydrogenase, short-chain, deficiency of | . | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACADSB CL E G H | 36 | 91 | OMIM:610006 | 2-Methylbutyryl-Coa dehydrogenase deficiency | . | | | 111 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACAT2 CL E G H | 39 | 94 | OMIM:614055 | Acetyl-Coa acetyltransferase-2 deficiency | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACD CL E G H | 65057 | 25070 | OMIM:616553 | Dyskeratosis congenita, autosomal dominant 6 | . | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040281 - Very frequent | | | 120 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | | | | 120 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACOX2 CL E G H | 8309 | 120 | OMIM:617308 | Bile acid synthesis defect, congenital, 6 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACSF3 CL E G H | 197322 | 27288 | ORPHA:289504 | Combined malonic and methylmalonic acidemia | HP:0040283 - Occasional | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACSF3 CL E G H | 197322 | 27288 | OMIM:614265 | Combined malonic and methylmalonic aciduria | . | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97244 | Rigid spine syndrome | HP:0040283 - Occasional | | | 96 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACY1 CL E G H | 95 | 177 | OMIM:609924 | Aminoacylase 1 deficiency | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ACY1 CL E G H | 95 | 177 | ORPHA:137754 | Neurological conditions associated with aminoacylase 1 deficiency | HP:0040283 - Occasional | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 116 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | . | | | 116 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:619651 | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD | | | | 25 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADD3 CL E G H | 120 | 245 | OMIM:617008 | Cerebral palsy, spastic quadriplegic, 3 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040282 - Frequent | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADGRG1 CL E G H | 9289 | 4512 | OMIM:606854 | Polymicrogyria, bilateral frontoparietal | | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADGRL1 CL E G H | 22859 | 20973 | OMIM:620065 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | . | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ADSL CL E G H | 158 | 291 | ORPHA:46 | Adenylosuccinate lyase deficiency | | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 85 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHCY CL E G H | 191 | 343 | OMIM:613752 | HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | . | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | . | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 175 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AIPL1 CL E G H | 23746 | 359 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:99802 | Hemimegalencephaly | | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALB CL E G H | 213 | 399 | OMIM:616000 | Analbuminemia | | | | 104 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | | | | 104 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:35664 | ALDH18A1-related De Barsy syndrome | HP:0040281 - Very frequent | | | 89 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | . | | | 89 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | . | | | 89 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040281 - Very frequent | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH5A1 CL E G H | 7915 | 408 | ORPHA:22 | Succinic semialdehyde dehydrogenase deficiency | HP:0040281 - Very frequent | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH5A1 CL E G H | 7915 | 408 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | . | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH6A1 CL E G H | 4329 | 7179 | OMIM:614105 | Methylmalonate semialdehyde dehydrogenase deficiency | . | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALDH7A1 CL E G H | 501 | 877 | OMIM:266100 | Epilepsy, pyridoxine-dependent | . | | | 227 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040281 - Very frequent | | | 58 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | . | | | 58 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040281 - Very frequent | | | 41 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | . | | | 41 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | . | | | 96 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619031 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF | | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | . | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040281 - Very frequent | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG6 CL E G H | 29929 | 23157 | OMIM:603147 | Congenital disorder of glycosylation, type Ic | . | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040281 - Very frequent | | | 93 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALKBH8 CL E G H | 91801 | 25189 | OMIM:618504 | Intellectual developmental disorder, autosomal recessive 71 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | . | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANAPC7 CL E G H | 51434 | 17380 | OMIM:619699 | FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANK3 CL E G H | 288 | 494 | OMIM:615493 | Mental retardation, autosomal recessive 37 | | | | 176 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKLE2 CL E G H | 23141 | 29101 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKLE2 CL E G H | 23141 | 29101 | OMIM:616681 | Microcephaly 16, primary, autosomal recessive | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | . | | | 102 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ANKRD17 CL E G H | 26057 | 23575 | OMIM:619504 | CHOPRA-AMIEL-GORDON SYNDROME; CAGS | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619548 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S1 CL E G H | 1174 | 559 | OMIM:609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85335 | Fried syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 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:0001263 | HP:0001263 | Global developmental delay | 0 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | . | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | . | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 41 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | . | | | 41 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | . | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:617169 | Sotos syndrome 3 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | APP CL E G H | 351 | 620 | ORPHA:324703 | ABetaL34V amyloidosis | HP:0040281 - Very frequent | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040284 - Very rare | | | 75 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARF1 CL E G H | 375 | 652 | OMIM:618185 | Periventricular nodular heterotopia 8 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARFGEF1 CL E G H | 10565 | 15772 | OMIM:619964 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | | | | 179 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | . | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARG1 CL E G H | 383 | 663 | ORPHA:90 | Argininemia | HP:0040281 - Very frequent | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | . | | | 147 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | . | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | HP:0040281 - Very frequent | | | 219 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:600151 | Bardet-Biedl syndrome 3 | | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARV1 CL E G H | 64801 | 29561 | OMIM:617020 | Epileptic encephalopathy, early infantile, 38 | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | . | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:452 | X-linked lissencephaly with abnormal genitalia | HP:0040281 - Very frequent | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040282 - Frequent | | | 78 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASPA CL E G H | 443 | 756 | OMIM:271900 | Canavan disease | | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314918 | Mild Canavan disease | | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | HP:0040281 - Very frequent | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASPM CL E G H | 259266 | 19048 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 512 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | . | | | 119 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040281 - Very frequent | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATCAY CL E G H | 85300 | 779 | OMIM:601238 | Cerebellar ataxia, Cayman type | . | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATCAY CL E G H | 85300 | 779 | ORPHA:94122 | Cerebellar ataxia, Cayman type | HP:0040282 - Frequent | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATG5 CL E G H | 9474 | 589 | OMIM:617584 | Spinocerebellar ataxia, autosomal recessive 25 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A1 CL E G H | 476 | 799 | ORPHA:564178 | Primary hypomagnesemia with refractory seizures and intellectual disability | HP:0040282 - Frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 239 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:614820 | Alternating hemiplegia of childhood 2 | . | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:551500 | Neuropathy, ataxia, and retinitis pigmentosa | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619970 | | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619971 | | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040281 - Very frequent | | | 192 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | . | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | | | | 168 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040282 - Frequent | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AUH CL E G H | 549 | 890 | ORPHA:67046 | 3-methylglutaconic aciduria type 1 | HP:0040282 - Frequent | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040282 - Frequent | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | . | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040284 - Very rare | | | 67 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | HP:0040283 - Occasional | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GALT1 CL E G H | 2683 | 924 | OMIM:607091 | Congenital disorder of glycosylation, type IID | . | | | 85 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B9D1 CL E G H | 27077 | 24123 | OMIM:617120 | Joubert syndrome 27 | . | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCAP31 CL E G H | 10134 | 16695 | OMIM:300475 | Deafness, dystonia, and cerebral hypomyelination | . | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | . | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | . | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040282 - Frequent | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | . | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040284 - Very rare | | | 276 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 276 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 5769 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 7642 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 1086 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRIP1 CL E G H | 83990 | 20473 | OMIM:609054 | FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ | | | | 1086 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | . | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | | | | 223 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C12ORF4 CL E G H | 57102 | 1184 | OMIM:618221 | Mental retardation, autosomal recessive 66 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C18ORF32 CL E G H | 497661 | 31690 | OMIM:619985 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | HP:0040283 - Occasional | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | HP:0040281 - Very frequent | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | HP:0040283 - Occasional | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:617106 | Epileptic encephalopathy, early infantile, 42 | . | | | 449 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 449 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1B CL E G H | 774 | 1389 | OMIM:618497 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | . | | | 572 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | . | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:618087 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | . | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 59 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CACNA2D2 CL E G H | 9254 | 1400 | OMIM:618501 | Cerebellar atrophy with seizures and variable developmental delay | . | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | . | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:618095 | Mental retardation, autosomal recessive 63 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040281 - Very frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAPN15 CL E G H | 6650 | 11182 | OMIM:619318 | OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040282 - Frequent | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | . | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300422 | FG SYNDROME 4; FGS4 | | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | | | | 242 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D1A CL E G H | 54862 | 30237 | OMIM:608443 | Mental retardation, autosomal recessive 3 | | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC22 CL E G H | 28952 | 28909 | OMIM:300963 | Ritscher-Schinzel syndrome 2 | . | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCDC88A CL E G H | 55704 | 25523 | OMIM:617507 | Peho-Like syndrome | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCND2 CL E G H | 894 | 1583 | OMIM:615938 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 | . | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CCNK CL E G H | 8812 | 1596 | OMIM:618147 | Intellectual developmental disorder with hypertelorism and distinctive facies | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | . | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDCA7 CL E G H | 83879 | 14628 | OMIM:616910 | Immunodeficiency-Centromeric instability-facial anomalies syndrome 3 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:619957 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 636 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | . | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK5 CL E G H | 1020 | 1774 | OMIM:616342 | Lissencephaly 7 with cerebellar hypoplasia | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 181 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | . | | | 181 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDK6 CL E G H | 1021 | 1777 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | | | | 405 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | | | | 405 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 405 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | HP:0040283 - Occasional | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | | | | 200 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 200 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CENPE CL E G H | 1062 | 1856 | OMIM:616051 | Microcephaly 13, primary, autosomal recessive | | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 161 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CENPJ CL E G H | 55835 | 17272 | OMIM:608393 | Microcephaly, primary autosomal recessive, 6 | | | | 161 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | | | | 161 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP104 CL E G H | 9731 | 24866 | OMIM:619988 | | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP104 CL E G H | 9731 | 24866 | OMIM:616781 | Joubert syndrome 25 | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:617761 | Joubert syndrome 31 | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP135 CL E G H | 9662 | 29086 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 146 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | | | | 146 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP164 CL E G H | 22897 | 29182 | OMIM:614845 | Nephronophthisis 15 | HP:0040283 - Occasional | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:615991 | Bardet-Biedl syndrome 14 | . | | | 342 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 342 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 342 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 12370 | OMIM:614464 | Joubert syndrome 15 | . | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP63 CL E G H | 80254 | 25815 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CFAP43 CL E G H | 80217 | 26684 | OMIM:236690 | Hydrocephalus, normal pressure, 1 | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | . | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD1 CL E G H | 1105 | 1915 | ORPHA:529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD1 CL E G H | 1105 | 1915 | OMIM:617682 | Pilarowski-Bjornsson syndrome | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD2 CL E G H | 1106 | 1917 | OMIM:615369 | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC | | | | 227 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 227 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | . | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHRNA7 CL E G H | 1139 | 1960 | ORPHA:199318 | 15q13.3 microdeletion syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIC CL E G H | 23152 | 14214 | OMIM:617600 | Mental retardation, autosomal dominant 45 | . | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIT CL E G H | 11113 | 1985 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | . | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | . | | | 45 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLIC2 CL E G H | 1193 | 2063 | OMIM:300886 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040283 - Occasional | | | 111 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLP1 CL E G H | 10978 | 16999 | ORPHA:411493 | Pontocerebellar hypoplasia type 10 | HP:0040282 - Frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | HP:0040281 - Very frequent | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619835 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A | | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619813 | NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9 | | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CLTRN CL E G H | 57393 | 29437 | ORPHA:2116 | Hartnup disease | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNKSR2 CL E G H | 22866 | 19701 | OMIM:301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG | | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNNM2 CL E G H | 54805 | 103 | OMIM:616418 | Hypomagnesemia, seizures, and mental retardation | . | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:619033 | VISSERS-BODMER SYNDROME; VIBOS | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNPY3 CL E G H | 10695 | 11968 | OMIM:617929 | Epileptic encephalopathy, early infantile, 60 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CNTNAP2 CL E G H | 26047 | 13830 | OMIM:610042 | Pitt-Hopkins-Like syndrome 1 | . | | | 518 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COA3 CL E G H | 28958 | 24990 | OMIM:619058 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | | | | 64 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL27A1 CL E G H | 85301 | 22986 | OMIM:615155 | Steel syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 749 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 193 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COL4A2 CL E G H | 1284 | 2203 | OMIM:614483 | PORENCEPHALY 2; POREN2 | | | | 147 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COLGALT1 CL E G H | 79709 | 26182 | OMIM:618360 | Brain small vessel disease 3 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:619884 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COPB2 CL E G H | 9276 | 2232 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COQ8A CL E G H | 56997 | 16812 | OMIM:612016 | Coenzyme Q10 deficiency, primary, 4 | HP:0040283 - Occasional | | | 136 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COQ9 CL E G H | 57017 | 25302 | OMIM:614654 | Coenzyme Q10 deficiency, primary, 5 | . | | | 44 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CORO1A CL E G H | 11151 | 2252 | OMIM:615401 | Immunodeficiency 8 | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 104 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | HP:0040282 - Frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:614615 | Joubert syndrome 17 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:617976 | Epileptic encephalopathy, early infantile, 63 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | . | | | 124 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 156 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRBN CL E G H | 51185 | 30185 | OMIM:607417 | Mental retardation, autosomal recessive 2 | . | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 158 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | HP:0040284 - Very rare | | | 149 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | . | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 160 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTCF CL E G H | 10664 | 13723 | OMIM:615502 | Mental retardation, autosomal dominant 21 | | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTNNA2 CL E G H | 1496 | 2510 | OMIM:618174 | Cortical dysplasia, complex, with other brain malformations 9 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040284 - Very rare | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | . | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CUX1 CL E G H | 1523 | 2557 | OMIM:618330 | Global developmental delay with or without impaired intellectual development | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CUX2 CL E G H | 23316 | 19347 | OMIM:618141 | Epileptic encephalopathy, early infantile, 67 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYB5R3 CL E G H | 1727 | 2873 | OMIM:250800 | Methemoglobinemia due to deficiency of methemoglobin reductase | . | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | CYP2U1 CL E G H | 113612 | 20582 | ORPHA:320411 | Autosomal recessive spastic paraplegia type 56 | HP:0040282 - Frequent | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | D2HGDH CL E G H | 728294 | 28358 | OMIM:600721 | D-2-Hydroxyglutaric aciduria 1 | . | | | 102 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | . | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DALRD3 CL E G H | 55152 | 25536 | OMIM:618910 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DBR1 CL E G H | 51163 | 15594 | OMIM:619441 | ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DCPS CL E G H | 28960 | 29812 | OMIM:616459 | Al-Raqad syndrome | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | . | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | HP:0040281 - Very frequent | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | . | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDOST CL E G H | 1650 | 2728 | OMIM:614507 | Congenital disorder of glycosylation, type IR | . | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDX3X CL E G H | 1654 | 2745 | ORPHA:457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:617171 | Dyskinesia, seizures, and intellectual developmental disorder | . | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | . | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040281 - Very frequent | | | 159 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:617836 | Developmental delay and seizures with or without movement abnormalities | | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:204750 | 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD | | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:618731 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:618272 | Global developmental delay, lung cysts, overgrowth, and wilms tumor | . | | | 670 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DIP2B CL E G H | 57609 | 29284 | OMIM:136630 | Mental retardation, Fra12a type | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040281 - Very frequent | | | 164 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | . | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLG3 CL E G H | 1741 | 2902 | OMIM:300850 | MENTAL RETARDATION, X-LINKED 90; MRX90 | | | | 30 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DLL1 CL E G H | 28514 | 2908 | OMIM:618709 | NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98896 | Duchenne muscular dystrophy | HP:0040281 - Very frequent | | | 1496 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:618663 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615807 | Seckel syndrome 8 | . | | | 41 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNAJC12 CL E G H | 56521 | 28908 | OMIM:617384 | Hyperphenylalaninemia, MILD, non-bh4-deficient | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | HP:0040284 - Very rare | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNM1 CL E G H | 1759 | 2972 | OMIM:616346 | Epileptic encephalopathy, early infantile, 31 | HP:0040283 - Occasional | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 94 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:618724 | HEYN-SPROUL-JACKSON SYNDROME; HESJAS | | | | 44 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOCK3 CL E G H | 1795 | 2989 | OMIM:618292 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | . | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOCK7 CL E G H | 85440 | 19190 | OMIM:615859 | Epileptic encephalopathy, early infantile, 23 | . | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:617604 | Microcephaly, short stature, and limb abnormalities | HP:0040284 - Very rare | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | . | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040282 - Frequent | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040282 - Frequent | | | 144 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | | | | 427 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | | | | 427 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | HP:0040283 - Occasional | | | 427 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040281 - Very frequent | | | 134 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040281 - Very frequent | | | 134 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | . | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | . | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616409 | Epileptic encephalopathy, early infantile, 33 | . | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | . | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EGF CL E G H | 1950 | 3229 | OMIM:611718 | HYPOMAGNESEMIA 4, RENAL; HOMG4 | | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040281 - Very frequent | | | 223 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040281 - Very frequent | | | 223 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:619687 | DYSTONIA 33; DYT33 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EIF3F CL E G H | 8665 | 3275 | OMIM:618295 | Intellectual developmental disorder, autosomal recessive 67 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ELAC2 CL E G H | 60528 | 14198 | OMIM:615440 | Combined oxidative phosphorylation deficiency 17 | . | | | 67 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | . | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EML1 CL E G H | 2009 | 3330 | OMIM:600348 | Band heterotopia | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 151 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:613684 | Rubinstein-Taybi syndrome 2 | . | | | 250 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EPB41L1 CL E G H | 2036 | 3378 | OMIM:614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | . | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 158 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 158 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | . | | | 83 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | | | | 83 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:278780 | Xeroderma pigmentosum, complementation group G | | | | 83 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 83 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | | | | 199 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040281 - Very frequent | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ERMARD CL E G H | 55780 | 21056 | OMIM:615544 | Periventricular nodular heterotopia 6 | . | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | . | | | 42 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC3 |