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 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | . | | | 108 | | |
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 | 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 | ORPHA:90 | Argininemia | HP:0040281 - Very frequent | | | 31 | | |
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 | 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 | ORPHA:94122 | Cerebellar ataxia, Cayman type | HP:0040282 - Frequent | | | 72 | | |
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 | 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 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
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 | 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 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
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 | 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 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 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 | 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 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
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 | 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 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040281 - Very frequent | | | 159 | | |
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 | 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 | ORPHA:2849 | Perlman syndrome | HP:0040281 - Very frequent | | | 164 | | |
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 | 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 | ORPHA:85282 | MEHMO syndrome | | | | 8 | | |
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 | 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 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
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 | 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 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | . | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:616682 | Seizures, scoliosis, and macrocephaly/microcephaly syndrome | . | | | 102 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:466926 | Seizures-scoliosis-macrocephaly syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | . | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAM149B1 CL E G H | 317662 | 29162 | OMIM:618763 | JOUBERT SYNDROME 36; JBTS36 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | . | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 340 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 58 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 410 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 147 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 87 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 157 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | . | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 107 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | HP:0040282 - Frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040282 - Frequent | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | . | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FASTKD2 CL E G H | 22868 | 29160 | OMIM:618855 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44 | | | | 122 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040281 - Very frequent | | | 172 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 172 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 175 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | HP:0040282 - Frequent | | | 175 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:610474 | Camptodactyly, tall stature, and hearing loss syndrome | . | | | 145 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:53271 | Muenke syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | | | | 145 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | | | | 145 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | . | | | 145 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:208441 | Bilateral parasagittal parieto-occipital polymicrogyria | HP:0040282 - Frequent | | | 111 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FITM2 CL E G H | 128486 | 16135 | OMIM:618635 | SIDDIQI SYNDROME; SIDDIS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 157 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:272 | Congenital muscular dystrophy, Fukuyama type | HP:0040281 - Very frequent | | | 184 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 184 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040282 - Frequent | | | 493 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:56305 | Atelosteogenesis type III | HP:0040283 - Occasional | | | 233 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | . | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FMN2 CL E G H | 56776 | 14074 | OMIM:616193 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47 | | | | 44 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FOXRED1 CL E G H | 55572 | 26927 | OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | . | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRA16E CL E G H | 2464 | 3861 | OMIM:136570 | Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FTCD CL E G H | 10841 | 3974 | ORPHA:51208 | Formiminoglutamic aciduria | | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | . | | | 70 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | HP:0040281 - Very frequent | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 109 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | HP:0040283 - Occasional | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRA1 CL E G H | 2554 | 4075 | OMIM:615744 | Epileptic encephalopathy, early infantile, 19 | . | | | 134 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRB1 CL E G H | 2560 | 4081 | OMIM:617153 | Epileptic encephalopathy, early infantile, 45 | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRB2 CL E G H | 2561 | 4082 | OMIM:617829 | Epileptic encephalopathy, infantile or early childhood, 2 | | | | 44 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 44 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRB3 CL E G H | 2562 | 4083 | OMIM:617113 | Epileptic encephalopathy, early infantile, 43 | . | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRG2 CL E G H | 2566 | 4087 | OMIM:618396 | Epileptic encephalopathy, early infantile, 74 | | | | 139 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 139 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GALE CL E G H | 2582 | 4116 | OMIM:230350 | Galactose epimerase deficiency | . | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | . | | | 91 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | | | | 91 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GATM CL E G H | 2628 | 4175 | OMIM:612718 | Cerebral creatine deficiency syndrome 3 | . | | | 86 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | | | | 115 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | . | | | 86 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 237 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | HP:0040283 - Occasional | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 64 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GDI1 CL E G H | 2664 | 4226 | OMIM:300849 | MENTAL RETARDATION, X-LINKED 41; MRX41 | | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GEMIN5 CL E G H | 25929 | 20043 | OMIM:619333 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363717 | Alexander disease type I | | | | 188 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GFER CL E G H | 2671 | 4236 | ORPHA:330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GFER CL E G H | 2671 | 4236 | OMIM:613076 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | . | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | HP:0040283 - Occasional | | | 173 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | . | | | 173 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | | | 143 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618412 | Global developmental delay, progressive ataxia, and elevated glutamine | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GLYCTK CL E G H | 132158 | 24247 | ORPHA:941 | D-glyceric aciduria | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | . | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040282 - Frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | . | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | . | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:615473 | Epileptic encephalopathy, early infantile, 17 | . | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | . | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNB1 CL E G H | 2782 | 4396 | ORPHA:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNB5 CL E G H | 10681 | 4401 | ORPHA:542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNB5 CL E G H | 10681 | 4401 | OMIM:617173 | Intellectual developmental disorder with cardiac arrhythmia | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNB5 CL E G H | 10681 | 4401 | OMIM:617182 | Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | HP:0040283 - Occasional | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040283 - Occasional | | | 173 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GORAB CL E G H | 92344 | 25676 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040283 - Occasional | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 23 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPAA1 CL E G H | 8733 | 4446 | OMIM:617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | . | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPR88 CL E G H | 54112 | 4539 | OMIM:616939 | Chorea, childhood-onset, with psychomotor retardation | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619927 | | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040281 - Very frequent | | | 30 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRID2 CL E G H | 2895 | 4576 | OMIM:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 | | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:611092 | Mental retardation, autosomal recessive 6 | . | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:619814 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101 | | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | . | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | | | | 434 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN2A CL E G H | 2903 | 4585 | OMIM:245570 | EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD | | | | 434 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN2B CL E G H | 2904 | 4586 | OMIM:616139 | Epileptic encephalopathy, early infantile, 27 | . | | | 274 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN2B CL E G H | 2904 | 4586 | OMIM:613970 | Mental retardation, autosomal dominant 6, with or without seizures | . | | | 274 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN2D CL E G H | 2906 | 4588 | OMIM:617162 | Epileptic encephalopathy, early infantile, 46 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GSX2 CL E G H | 170825 | 24959 | OMIM:618646 | DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GTPBP3 CL E G H | 84705 | 14880 | OMIM:616198 | Combined oxidative phosphorylation deficiency 23 | HP:0040282 - Frequent | | | 30 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 124 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | GYS2 CL E G H | 2998 | 4707 | ORPHA:2089 | Glycogen storage disease due to hepatic glycogen synthase deficiency | HP:0040283 - Occasional | | | 100 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | H4C11 CL E G H | 8363 | 4785 | OMIM:619759 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 99 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HAL CL E G H | 3034 | 4806 | ORPHA:2157 | Histidinemia | | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HCN1 CL E G H | 348980 | 4845 | OMIM:618482 | Generalized epilepsy with febrile seizures plus, type 10 | HP:0040284 - Very rare | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | . | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:3459 | Wilson-Turner syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HELLS CL E G H | 3070 | 4861 | OMIM:616911 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | HP:0040283 - Occasional | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | . | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | . | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | | | | 86 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HIBCH CL E G H | 26275 | 4908 | OMIM:250620 | 3-Hydroxyisobutyryl-Coa hydrolase deficiency | . | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HIKESHI CL E G H | 51501 | 26938 | OMIM:616881 | Leukodystrophy, hypomyelinating, 13 | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HMGB3 CL E G H | 3149 | 5004 | OMIM:300915 | Microphthalmia, syndromic 13 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | HP:0040284 - Very rare | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNMT CL E G H | 3176 | 5028 | OMIM:616739 | Mental retardation, autosomal recessive 51 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | . | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HNRNPU CL E G H | 3192 | 5048 | OMIM:617391 | Epileptic encephalopathy, early infantile, 54 | . | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | HP:0040284 - Very rare | | | 45 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040282 - Frequent | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391457 | HSD10 disease, neonatal type | | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | . | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:612233 | Leukodystrophy, hypomyelinating, 4 | . | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HYCC1 CL E G H | 84668 | 24587 | ORPHA:85163 | Hypomyelination-congenital cataract syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IDH2 CL E G H | 3418 | 5383 | OMIM:613657 | D-2-hydroxyglutaric aciduria 2 | . | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040284 - Very rare | | | 86 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040282 - Frequent | | | 86 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | HP:0011463 - Childhood onset | | 115 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | . | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 148 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | HP:0040284 - Very rare | | | 148 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | . | | | 229 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040282 - Frequent | | | 229 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INTS8 CL E G H | 55656 | 26048 | OMIM:618572 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IQSEC1 CL E G H | 9922 | 29112 | OMIM:618687 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:397933 | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 119 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 69 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 80 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITPA CL E G H | 3704 | 6176 | OMIM:616647 | Epileptic encephalopathy, early infantile, 35 | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:1065 | Aniridia-cerebellar ataxia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | HP:0040283 - Occasional | | | 177 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IVD CL E G H | 3712 | 6186 | OMIM:243500 | Isovaleric acidemia | . | | | 105 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | IVD CL E G H | 3712 | 6186 | ORPHA:33 | Isovaleric acidemia | HP:0040281 - Very frequent | | | 105 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | JAM3 CL E G H | 83700 | 15532 | OMIM:613730 | Hemorrhagic destruction of the brain, subependymal calcification,and cataracts | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040281 - Very frequent | | | 283 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040281 - Very frequent | | | 283 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | HP:0040281 - Very frequent | | | 141 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040281 - Very frequent | | | 141 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 145 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNA2 CL E G H | 3737 | 6220 | OMIM:616366 | Epileptic encephalopathy, early infantile, 32 | | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNB1 CL E G H | 3745 | 6231 | OMIM:616056 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26 | | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040282 - Frequent | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040281 - Very frequent | | | 121 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79134 | DEND syndrome | | | | 127 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:618856 | DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2 | | | | 127 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 127 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ13 CL E G H | 3769 | 6259 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 42 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:617643 | Cerebellar atrophy, developmental delay, and seizures | . | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618596 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16 | | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNMA1 CL E G H | 3778 | 6284 | ORPHA:79137 | Generalized epilepsy-paroxysmal dyskinesia syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:609446 | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | HP:0040284 - Very rare | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:613720 | Epileptic encephalopathy, early infantile, 7 | . | | | 528 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:439218 | KCNQ2-related epileptic encephalopathy | HP:0040281 - Very frequent | | | 528 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:121200 | Seizures, benign familial neonatal, 1 | HP:0040283 - Occasional | | | 528 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNQ5 CL E G H | 56479 | 6299 | OMIM:617601 | Mental retardation, autosomal dominant 46 | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KCNT2 CL E G H | 343450 | 18866 | OMIM:617771 | Epileptic encephalopathy, early infantile, 57 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616490 | Joubert syndrome 23 | . | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040282 - Frequent | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF14 CL E G H | 9928 | 19181 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | . | | | 276 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | HP:0040283 - Occasional | | | 276 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040283 - Occasional | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF2A CL E G H | 3796 | 6318 | OMIM:615411 | Cortical dysplasia, complex, with other brain malformations 3 | . | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 167 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KLHL15 CL E G H | 80311 | 29347 | OMIM:300982 | MENTAL RETARDATION, X-LINKED 103; MRX103 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | . | | | 91 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | HP:0040283 - Occasional | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT2C CL E G H | 58508 | 13726 | OMIM:617768 | Kleefstra syndrome 2 | | | | 99 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040281 - Very frequent | | | 99 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KNL1 CL E G H | 57082 | 24054 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 112 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | | | | 196 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040281 - Very frequent | | | 196 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 110 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 173 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619599 | EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D | | | | 173 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | KYNU CL E G H | 8942 | 6469 | ORPHA:79155 | Hydroxykynureninuria | HP:0040282 - Frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAGE3 CL E G H | 8270 | 26058 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAMB1 CL E G H | 3912 | 6486 | ORPHA:352682 | Cobblestone lissencephaly without muscular or ocular involvement | | | | 71 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | | | | 71 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 92 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAMC3 CL E G H | 10319 | 6494 | OMIM:614115 | Cortical malformations, occipital | HP:0040283 - Occasional | | | 114 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | . | | | 211 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 136 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 136 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARP7 CL E G H | 51574 | 24912 | OMIM:615071 | Alazami syndrome | . | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAS1L CL E G H | 81887 | 25726 | ORPHA:3459 | Wilson-Turner syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LAS1L CL E G H | 81887 | 25726 | OMIM:309585 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | . | | | 70 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 70 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 70 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:620089 | | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIAS CL E G H | 11019 | 16429 | OMIM:614462 | Hyperglycinemia, lactic acidosis, and seizures | | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIG4 CL E G H | 3981 | 6601 | OMIM:606593 | Lig4 syndrome | . | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LINGO1 CL E G H | 84894 | 21205 | OMIM:618103 | Mental retardation, autosomal recessive 64 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LINS1 CL E G H | 55180 | 30922 | OMIM:614340 | Mental retardation, autosomal recessive 27 | . | | | 25 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | HP:0040281 - Very frequent | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | . | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMAN2L CL E G H | 81562 | 19263 | OMIM:617863 | | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMAN2L CL E G H | 81562 | 19263 | OMIM:616887 | Mental retardation, autosomal recessive 52 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | . | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:157973 | Congenital muscular dystrophy due to LMNA mutation | HP:0040282 - Frequent | | | 645 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:616540 | Epilepsy, progressive myoclonic, 9 | . | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LNPK CL E G H | 80856 | 21610 | OMIM:618090 | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | . | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040281 - Very frequent | | | 289 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 125 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome | | | | 125 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040281 - Very frequent | | | 191 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | . | | | 191 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LRRK1 CL E G H | 79705 | 18608 | OMIM:615198 | Osteosclerotic metaphyseal dysplasia | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LSM11 CL E G H | 134353 | 30860 | OMIM:619486 | AICARDI-GOUTIERES SYNDROME 8; AGS8 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LTBP4 CL E G H | 8425 | 6717 | ORPHA:98896 | Duchenne muscular dystrophy | HP:0040281 - Very frequent | | | 92 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LTC4S CL E G H | 4056 | 6719 | OMIM:614037 | LEUKOTRIENE C4 SYNTHASE DEFICIENCY | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:301031 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC | | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040281 - Very frequent | | | 93 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | . | | | 178 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MARS1 CL E G H | 4141 | 6898 | ORPHA:401835 | Autosomal recessive spastic paraplegia type 70 | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:619692 | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | . | | | 25 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MAST1 CL E G H | 22983 | 19034 | OMIM:618273 | Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MBOAT7 CL E G H | 79143 | 15505 | OMIM:617188 | Mental retardation, autosomal recessive 57 | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | . | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MCM7 CL E G H | 4176 | 6950 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MCOLN1 CL E G H | 57192 | 13356 | OMIM:252650 | Mucolipidosis IV | | | | 78 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MCPH1 CL E G H | 79648 | 6954 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 155 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | | | | 950 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300673 | Encephalopathy, neonatal severe, due to mecp2 mutations | . | | | 950 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | . | | | 228 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MED17 CL E G H | 9440 | 2375 | OMIM:613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | . | | | 23 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MEG3 CL E G H | 55384 | 14575 | 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 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MEIS2 CL E G H | 4212 | 7001 | ORPHA:261190 | 15q14 microdeletion syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | METTL23 CL E G H | 124512 | 26988 | OMIM:615942 | Mental retardation, autosomal recessive 44 | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | METTL5 CL E G H | 29081 | 25006 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MFF CL E G H | 56947 | 24858 | OMIM:617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | . | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MFSD2A CL E G H | 84879 | 25897 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | . | | | 120 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040281 - Very frequent | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | . | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MID2 CL E G H | 11043 | 7096 | OMIM:300928 | MENTAL RETARDATION, X-LINKED 101; MRX101 | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MIPEP CL E G H | 4285 | 7104 | OMIM:617228 | Combined oxidative phosphorylation deficiency 31 | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:615990 | BARDET-BIEDL SYNDROME 13; BBS13 | | | | 127 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 127 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MLYCD CL E G H | 23417 | 7150 | OMIM:248360 | Malonyl-CoA decarboxylase deficiency | | | | 80 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MMADHC CL E G H | 27249 | 25221 | ORPHA:79283 | Methylmalonic acidemia with homocystinuria, type cblD | HP:0040281 - Very frequent | | | 50 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | . | | | 50 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | . | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | . | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | . | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MRPL12 CL E G H | 6182 | 10378 | OMIM:618951 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45 | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MRPS22 CL E G H | 56945 | 14508 | OMIM:611719 | Combined oxidative phosphorylation deficiency 5 | | | | 25 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MRPS25 CL E G H | 64432 | 14511 | OMIM:619025 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTFMT CL E G H | 123263 | 29666 | OMIM:614947 | Combined oxidative phosphorylation deficiency 15 | . | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTFMT CL E G H | 123263 | 29666 | OMIM:618248 | Mitochondrial complex I deficiency, nuclear type 27 | . | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:236250 | Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity | . | | | 183 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040283 - Occasional | | | 183 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTHFS CL E G H | 10588 | 7437 | OMIM:618367 | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTO1 CL E G H | 25821 | 19261 | OMIM:614702 | Combined oxidative phosphorylation deficiency 10 | . | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:99802 | Hemimegalencephaly | | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTR CL E G H | 4548 | 7468 | OMIM:250940 | Homocystinuria-megaloblastic anemia, cblg Complementation type | . | | | 217 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTRR CL E G H | 4552 | 7473 | OMIM:236270 | Homocystinuria-megaloblastic anemia, cbl E type | . | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040281 - Very frequent | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MTSS2 CL E G H | 92154 | 25094 | OMIM:620086 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040283 - Occasional | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:29 | Mevalonic aciduria | HP:0040281 - Very frequent | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | HP:0040282 - Frequent | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MYO5A CL E G H | 4644 | 7602 | OMIM:214450 | Griscelli syndrome, type 1 | . | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:33445 | Neuroectodermal melanolysosomal disease | HP:0040281 - Very frequent | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MYO5B CL E G H | 4645 | 7603 | ORPHA:2290 | Microvillus inclusion disease | HP:0040282 - Frequent | | | 192 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 516 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MYSM1 CL E G H | 114803 | 29401 | OMIM:618116 | Bone marrow failure syndrome 4 | HP:0040284 - Very rare | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAA15 CL E G H | 80155 | 30782 | OMIM:617787 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NACC1 CL E G H | 112939 | 20967 | ORPHA:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | . | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | HP:0040281 - Very frequent | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79281 | Alpha-N-acetylgalactosaminidase deficiency type 3 | HP:0040281 - Very frequent | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609241 | Schindler disease, type I | . | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | . | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAPB CL E G H | 63908 | 15751 | OMIM:620033 | | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619091 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NARS2 CL E G H | 79731 | 26274 | ORPHA:79134 | DEND syndrome | | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NBEA CL E G H | 26960 | 7648 | OMIM:619157 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NCAPD3 CL E G H | 23310 | 28952 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040281 - Very frequent | | | 96 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:614019 | Lissencephaly 4 | . | | | 96 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 96 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | . | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA1 CL E G H | 4694 | 7683 | OMIM:301020 | Mitochondrial complex I deficiency, nuclear type 12 | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 91 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA10 CL E G H | 4705 | 7684 | OMIM:618243 | Mitochondrial complex I deficiency, nuclear type 22 | . | | | 91 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA13 CL E G H | 51079 | 17194 | OMIM:618249 | Mitochondrial complex I deficiency, nuclear type 28 | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA2 CL E G H | 4695 | 7685 | OMIM:618235 | Mitochondrial complex I deficiency, nuclear type 13 | . | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | . | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF2 CL E G H | 91942 | 28086 | OMIM:618233 | Mitochondrial complex I deficiency, nuclear type 10 | . | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | . | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618239 | Mitochondrial complex I deficiency, nuclear type 17 | . | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFB3 CL E G H | 4709 | 7698 | OMIM:618246 | Mitochondrial complex I deficiency, nuclear type 25 | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | . | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 22 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | HP:0040284 - Very rare | | | 42 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | . | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NECAP1 CL E G H | 25977 | 24539 | OMIM:615833 | Epileptic encephalopathy, early infantile, 21 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEDD4L CL E G H | 23327 | 7728 | OMIM:617201 | Periventricular nodular heterotopia 7 | . | | | 30 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEMF CL E G H | 9147 | 10663 | OMIM:619099 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040281 - Very frequent | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:139474 | 17q11.2 microduplication syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040283 - Occasional | | | 1952 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | . | | | 1952 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | | | | 1952 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | . | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NFIA CL E G H | 4774 | 7784 | ORPHA:401986 | 1p31p32 microdeletion syndrome | | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | . | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 117 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NKAP CL E G H | 79576 | 29873 | OMIM:301039 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | HP:0040282 - Frequent | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NLGN1 CL E G H | 22871 | 14291 | OMIM:618830 | Autism, susceptibility to, 20 | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NMNAT1 CL E G H | 64802 | 17877 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | . | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | | | | 85 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 85 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 220 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NR2F1 CL E G H | 7025 | 7975 | OMIM:615722 | Bosch-Boonstra-Schaaf optic atrophy syndrome | . | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | HP:0040283 - Occasional | | | 102 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NRROS CL E G H | 375387 | 24613 | OMIM:618875 | SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 544 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | . | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | . | | | 84 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NSUN3 CL E G H | 63899 | 26208 | OMIM:619012 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NT5C2 CL E G H | 22978 | 8022 | ORPHA:320396 | Autosomal recessive spastic paraplegia type 45 | HP:0040282 - Frequent | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NTRK2 CL E G H | 4915 | 8032 | OMIM:617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58 | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NTRK2 CL E G H | 4915 | 8032 | OMIM:613886 | Obesity, hyperphagia, and developmental delay | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | . | | | 89 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618349 | Galloway-Mowat syndrome 8 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUS1 CL E G H | 116150 | 21042 | OMIM:617082 | Congenital disorder of glycosylation, type IAA | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUS1 CL E G H | 116150 | 21042 | OMIM:617831 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040281 - Very frequent | | | 121 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | . | | | 201 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 201 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OGDH CL E G H | 4967 | 8124 | ORPHA:31 | Oxoglutaric aciduria | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:616896 | MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14 | | | | 214 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OSGEP CL E G H | 55644 | 18028 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OSTM1 CL E G H | 28962 | 21652 | ORPHA:85179 | Infantile osteopetrosis with neuroaxonal dysplasia | HP:0040282 - Frequent | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | . | | | 369 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | . | | | 41 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 41 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | P3H1 CL E G H | 64175 | 19316 | OMIM:610915 | Osteogenesis imperfecta, type VIII | . | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | P4HB CL E G H | 5034 | 8548 | ORPHA:2050 | Cole-Carpenter syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040281 - Very frequent | | | 231 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | OMIM:607432 | Lissencephaly 1 | . | | | 231 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | HP:0040281 - Very frequent | | | 641 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040282 - Frequent | | | 641 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAK1 CL E G H | 5058 | 8590 | OMIM:618158 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 1349 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216866 | Classic pantothenate kinase-associated neurodegeneration | HP:0040283 - Occasional | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616353 | Dyskeratosis congenita, autosomal recessive 6 | . | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:1065 | Aniridia-cerebellar ataxia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 194 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | HP:0040282 - Frequent | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95720 | Thyroid hypoplasia | HP:0040282 - Frequent | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | . | | | 118 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCCA CL E G H | 5095 | 8653 | ORPHA:35 | Propionic acidemia | HP:0040282 - Frequent | | | 96 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCCB CL E G H | 5096 | 8654 | ORPHA:35 | Propionic acidemia | HP:0040282 - Frequent | | | 92 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCDH12 CL E G H | 51294 | 8657 | OMIM:251280 | Microcephaly, seizures, spasticity, and brain calcifications | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 352 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCDH19 CL E G H | 57526 | 14270 | OMIM:300088 | Epileptic encephalopathy, early infantile, 9 | HP:0040282 - Frequent | | | 225 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | HP:0040283 - Occasional | | | 225 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | . | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCNA CL E G H | 5111 | 8729 | OMIM:615919 | Ataxia-Telangiectasia-Like disorder 2 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCNA CL E G H | 5111 | 8729 | ORPHA:438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040283 - Occasional | | | 531 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | | | | 531 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDCD6IP CL E G H | 10015 | 8766 | OMIM:620047 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | . | | | 113 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDHB CL E G H | 5162 | 8808 | OMIM:614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040283 - Occasional | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDP1 CL E G H | 54704 | 9279 | ORPHA:79246 | Pyruvate dehydrogenase phosphatase deficiency | | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDP1 CL E G H | 54704 | 9279 | OMIM:608782 | Pyruvate dehydrogenase phosphatase deficiency | . | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 30 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PDZD8 CL E G H | 118987 | 26974 | OMIM:620021 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 169 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 169 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | . | | | 169 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | | | | 169 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 75 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 75 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | | | | 75 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | . | | | 75 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | | | | 75 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | . | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 59 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | | | | 59 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | . | | | 59 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | | | | 59 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | | | | 62 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX26 CL E G H | 55670 | 22965 | OMIM:614873 | Peroxisome biogenesis disorder 7B | . | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:617370 | Peroxisome biogenesis disorder 10B | . | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 99 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 99 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | | | | 99 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PGAP1 CL E G H | 80055 | 25712 | ORPHA:401820 | Autosomal recessive spastic paraplegia type 67 | HP:0040282 - Frequent | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | . | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PGAP3 CL E G H | 93210 | 23719 | OMIM:615716 | Hyperphosphatasia with mental retardation syndrome 4 | . | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PHC1 CL E G H | 1911 | 3182 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PHF21A CL E G H | 51317 | 24156 | OMIM:618725 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PHF21A CL E G H | 51317 | 24156 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | . | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040282 - Frequent | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIBF1 CL E G H | 10464 | 23352 | OMIM:617767 | Joubert syndrome 33 | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | . | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | HP:0040284 - Very rare | | | 77 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGC CL E G H | 5279 | 8960 | OMIM:617816 | Glycosylphosphatidylinositol biosynthesis defect 16 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGG CL E G H | 54872 | 25985 | OMIM:616917 | Mental retardation, autosomal recessive 53 | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | HP:0040284 - Very rare | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 84 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGP CL E G H | 51227 | 3046 | OMIM:617599 | Epileptic encephalopathy, early infantile, 55 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGW CL E G H | 284098 | 23213 | OMIM:616025 | Glycosylphosphatidylinositol biosynthesis defect 11 | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:99802 | Hemimegalencephaly | | | | 162 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:602501 | Megalencephaly-Capillary malformation-polymicrogyria syndrome | . | | | 162 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PIK3R2 CL E G H | 5296 | 8980 | OMIM:603387 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PISD CL E G H | 23761 | 8999 | OMIM:618889 | LIBERFARB SYNDROME; LIBF | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040283 - Occasional | | | 133 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | . | | | 133 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040283 - Occasional | | | 759 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLEKHG2 CL E G H | 64857 | 29515 | OMIM:616763 | Leukodystrophy and acquired microcephaly with or without dystonia | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | . | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | HP:0040281 - Very frequent | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLPBP CL E G H | 11212 | 9457 | OMIM:617290 | Epilepsy, early-onset, vitamin b6-dependent | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040282 - Frequent | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040283 - Occasional | | | 79 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PMPCA CL E G H | 23203 | 18667 | ORPHA:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PMPCA CL E G H | 23203 | 18667 | OMIM:213200 | Spinocerebellar ataxia, autosomal recessive 2 | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 244 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:613402 | Microcephaly, seizures, and developmental delay | | | | 244 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040283 - Occasional | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PNPO CL E G H | 55163 | 30260 | ORPHA:79096 | Pyridoxal phosphate-responsive seizures | HP:0040282 - Frequent | | | 92 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PNPO CL E G H | 55163 | 30260 | OMIM:610090 | Pyridoxamine 5-prime-phosphate oxidase deficiency | . | | | 92 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | HP:0040283 - Occasional | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040281 - Very frequent | | | 35 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:726 | Alpers-Huttenlocher syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | HP:0040283 - Occasional | | | 464 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | HP:0040283 - Occasional | | | 45 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:616494 | Leukodystrophy, hypomyelinating, 11 | . | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 138 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 67 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 180 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 180 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:614830 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | . | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | . | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 213 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 213 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 221 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 221 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040283 - Occasional | | | 221 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 221 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POU4F1 CL E G H | 5457 | 9218 | OMIM:619352 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | . | | | 22 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP2R5D CL E G H | 5528 | 9312 | OMIM:616355 | Mental retardation, autosomal dominant 35 | . | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93946 | Hamel cerebro-palato-cardiac syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93945 | X-linked intellectual disability, Porteous type | HP:0040281 - Very frequent | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93950 | X-linked intellectual disability, Sutherland-Haan type | HP:0040282 - Frequent | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619909 | | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619761 | CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 148 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PROC CL E G H | 5624 | 9451 | OMIM:612304 | Thrombophilia due to protein C deficiency, autosomal recessive | . | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRODH CL E G H | 5625 | 9453 | OMIM:239500 | Hyperprolinemia, type I | | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | . | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411543 | Severe phosphoribosylpyrophosphate synthetase superactivity | HP:0040284 - Very rare | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:610992 | Phosphoserine aminotransferase deficiency | . | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PSMB1 CL E G H | 5689 | 9537 | OMIM:620038 | | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PSMC3 CL E G H | 5702 | 9549 | OMIM:619354 | DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PSPH CL E G H | 5723 | 9577 | ORPHA:79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PSPH CL E G H | 5723 | 9577 | OMIM:614023 | Phosphoserine phosphatase deficiency | . | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 948 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | . | | | 948 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 291 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040281 - Very frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | . | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | . | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | . | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040281 - Very frequent | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PUS3 CL E G H | 83480 | 25461 | OMIM:617051 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | . | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PYCR1 CL E G H | 5831 | 9721 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040283 - Occasional | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | . | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | QDPR CL E G H | 5860 | 9752 | ORPHA:226 | Dihydropteridine reductase deficiency | HP:0040281 - Very frequent | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | . | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:300271 | Mental retardation, X-linked 72 | | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | . | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:401830 | Autosomal recessive spastic paraplegia type 69 | HP:0040282 - Frequent | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAC3 CL E G H | 5881 | 9803 | OMIM:618577 | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | . | | | 25 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 391 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 212 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RALA CL E G H | 5898 | 9839 | OMIM:619311 | HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RARS1 CL E G H | 5917 | 9870 | OMIM:616140 | Leukodystrophy, hypomyelinating, 9 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RD3 CL E G H | 343035 | 19689 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 95 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RDH11 CL E G H | 51109 | 17964 | OMIM:616108 | Retinal dystrophy, juvenile cataracts, and short stature syndrome | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 45 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RELN CL E G H | 5649 | 9957 | OMIM:257320 | Lissencephaly 2 | | | | 334 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 334 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | . | | | 92 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | HP:0040280 - Obligate | | | 92 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RIC1 CL E G H | 57589 | 17686 | OMIM:618761 | CATIFA SYNDROME; CATIFA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RIMS2 CL E G H | 9699 | 17283 | OMIM:618970 | CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNASET2 CL E G H | 8635 | 21686 | OMIM:612951 | Leukoencephalopathy, cystic, without megalencephaly | | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNF168 CL E G H | 165918 | 26661 | OMIM:611943 | Riddle syndrome | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | | | | 90 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RORB CL E G H | 6096 | 10259 | OMIM:618357 | Epilepsy, idiopathic generalized, susceptibility to, 15 | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 129 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 129 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 109 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:619113 | COACH SYNDROME 3; COACH3 | | | | 167 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPIA CL E G H | 22934 | 10297 | OMIM:608611 | Ribose 5-phosphate isomerase deficiency | . | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPL35A CL E G H | 6165 | 10345 | OMIM:612528 | Diamond-Blackfan anemia 5 | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 77 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | HP:0040281 - Very frequent | | | 77 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RUBCN CL E G H | 9711 | 28991 | OMIM:615705 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 | | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | . | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SARS1 CL E G H | 6301 | 10537 | OMIM:617709 | Neurodevelopmental disorder with microcephaly, ataxia, and seizures | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SASS6 CL E G H | 163786 | 25403 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SASS6 CL E G H | 163786 | 25403 | OMIM:616402 | Microcephaly 14, primary, autosomal recessive | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619228 | DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | . | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040281 - Very frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | HP:0040281 - Very frequent | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040281 - Very frequent | | | 80 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:607208 | Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) | | | | 1053 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 1053 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 126 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:617350 | Epileptic encephalopathy, early infantile, 52 | . | | | 126 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 427 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN2A CL E G H | 6326 | 10588 | OMIM:613721 | Epileptic encephalopathy, early infantile, 11 | . | | | 427 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617935 | Epilepsy, familial focal, with variable foci 4 | HP:0040284 - Very rare | | | 70 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617938 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62 | | | | 70 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 70 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614306 | Cognitive impairment with or without cerebellar ataxia | . | | | 357 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614558 | Epileptic encephalopathy, early infantile, 13 | . | | | 357 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 357 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | . | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:615993 | Bardet-Biedl syndrome 16 | . | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 304 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 304 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | | | | 304 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 237 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 237 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 129 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 129 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SEC24D CL E G H | 9871 | 10706 | ORPHA:2050 | Cole-Carpenter syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:97244 | Rigid spine syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | . | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:618832 | EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SETD1B CL E G H | 23067 | 29187 | OMIM:619000 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | . | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | | | | 97 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SHH CL E G H | 6469 | 10848 | OMIM:142945 | Holoprosencephaly 3 | . | | | 67 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIK1 CL E G H | 150094 | 11142 | OMIM:616341 | Deafness, autosomal dominant 67 | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1935 | Early myoclonic encephalopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:369873 | Obesity due to SIM1 deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | . | | | 150 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | HP:0040284 - Very rare | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619083 | DELPIRE-MCNEILL SYNDROME; DELMNES | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616645 | Epileptic encephalopathy, early infantile, 34 | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC12A6 CL E G H | 9990 | 10914 | ORPHA:1496 | Corpus callosum agenesis-neuronopathy syndrome | HP:0040281 - Very frequent | | | 163 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC13A5 CL E G H | 284111 | 23089 | OMIM:615905 | Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta | . | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:616095 | Monocarboxylate transporter 1 deficiency | . | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:604369 | Salla disease | . | | | 78 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:263410 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 110 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | HP:0040283 - Occasional | | | 110 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 70 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | . | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | . | | | 44 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040283 - Occasional | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | | | | 36 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1935 | Early myoclonic encephalopathy | HP:0040282 - Frequent | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A42 CL E G H | 284439 | 28380 | OMIM:618416 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | HP:0040284 - Very rare | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:619303 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E | | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 274 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95720 | Thyroid hypoplasia | HP:0040282 - Frequent | | | 274 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | HP:0040281 - Very frequent | | | 255 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:606777 | Glut1 deficiency syndrome 1 | . | | | 255 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | . | | | 255 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | HP:0040282 - Frequent | | | 255 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 255 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:608885 | Stomatin-Deficient cryohydrocytosis with neurologic defects | . | | | 255 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | . | | | 71 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | . | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | . | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040281 - Very frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC35A3 CL E G H | 23443 | 11023 | OMIM:615553 | Arthrogryposis, mental retardation, and seizures | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040282 - Frequent | | | 110 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC38A3 CL E G H | 10991 | 18044 | OMIM:619881 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | HP:0040283 - Occasional | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC39A8 CL E G H | 64116 | 20862 | OMIM:616721 | Congenital disorder of glycosylation, type IIN | . | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC45A1 CL E G H | 50651 | 17939 | OMIM:617532 | Intellectual developmental disorder with neuropsychiatric features | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040281 - Very frequent | | | 101 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:618973 | NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A19 CL E G H | 340024 | 27960 | ORPHA:2116 | Hartnup disease | HP:0040283 - Occasional | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A19 CL E G H | 340024 | 27960 | OMIM:234500 | Hartnup disorder | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A3 CL E G H | 6531 | 11049 | ORPHA:238455 | Infantile dystonia-parkinsonism | HP:0040282 - Frequent | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | . | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A5 CL E G H | 9152 | 11051 | OMIM:614618 | Hyperekplexia 3 | | | | 81 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A8 CL E G H | 6535 | 11055 | ORPHA:52503 | X-linked creatine transporter deficiency | HP:0040281 - Very frequent | | | 122 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | | | | 93 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLC9A7 CL E G H | 84679 | 17123 | OMIM:301024 | Intellectual developmental disorder, X-linked 108 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 274 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040281 - Very frequent | | | 504 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040281 - Very frequent | | | 146 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | . | | | 617 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | . | | | 87 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | . | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | . | | | 22 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNAP25 CL E G H | 6616 | 11132 | OMIM:616330 | Myasthenic syndrome, congenital, 18 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNORD118 CL E G H | 727676 | 32952 | ORPHA:542310 | Leukoencephalopathy with calcifications and cysts | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | . | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOBP CL E G H | 55084 | 29256 | OMIM:613671 | Mental retardation, anterior maxillary protrusion, and strabismus | . | | | 29 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040281 - Very frequent | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX3 CL E G H | 6658 | 11199 | OMIM:300123 | Mental retardation, X-linked, with isolated growth hormone deficiency | . | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX5 CL E G H | 6660 | 11201 | OMIM:616803 | Lamb-Shaffer syndrome | | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040282 - Frequent | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPATA5 CL E G H | 166378 | 18119 | OMIM:616577 | Epilepsy, hearing loss, and mental retardation syndrome | . | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 287 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | HP:0040282 - Frequent | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040282 - Frequent | | | 100 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPR CL E G H | 6697 | 11257 | OMIM:612716 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | . | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 126 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | HP:0040283 - Occasional | | | 126 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | . | | | 126 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | . | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 54 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | | | | 80 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040281 - Very frequent | | | 80 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:618752 | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040282 - Frequent | | | 50 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SSR4 CL E G H | 6748 | 11326 | OMIM:300934 | Congenital disorder of glycosylation, type Iy | | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | HP:0040280 - Obligate | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ST3GAL3 CL E G H | 6487 | 10866 | OMIM:615006 | Epileptic encephalopathy, early infantile, 15 | . | | | 41 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STAG1 CL E G H | 10274 | 11354 | OMIM:617635 | Mental retardation, autosomal dominant 47 | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:521258 | Xq25 microduplication syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 110 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STIL CL E G H | 6491 | 10879 | OMIM:612703 | Microcephaly 7, primary, autosomal recessive | | | | 99 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STS CL E G H | 412 | 11425 | ORPHA:281090 | Syndromic recessive X-linked ichthyosis | HP:0040282 - Frequent | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:615596 | Congenital disorder of glycosylation, type Iw | . | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STT3A CL E G H | 3703 | 6172 | ORPHA:370921 | STT3A-CDG | HP:0040280 - Obligate | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STT3B CL E G H | 201595 | 30611 | OMIM:615597 | Congenital disorder of glycosylation, type Ix | . | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STT3B CL E G H | 201595 | 30611 | ORPHA:370924 | STT3B-CDG | HP:0040280 - Obligate | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STX1B CL E G H | 112755 | 18539 | OMIM:616172 | Generalized epilepsy with febrile seizures plus, type 9 | HP:0040283 - Occasional | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STX3 CL E G H | 6809 | 11438 | ORPHA:2290 | Microvillus inclusion disease | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619446 | RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | | | | 237 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUCLA2 CL E G H | 8803 | 11448 | ORPHA:1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | HP:0040281 - Very frequent | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040281 - Very frequent | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 124 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | . | | | 124 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUGCT CL E G H | 79783 | 16001 | ORPHA:35706 | Glutaric acidemia type 3 | HP:0040283 - Occasional | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040281 - Very frequent | | | 80 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | . | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SYNGAP1 CL E G H | 8831 | 11497 | OMIM:612621 | Mental retardation, autosomal dominant 5 | . | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040281 - Very frequent | | | 108 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SYT14 CL E G H | 255928 | 23143 | ORPHA:284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SYT14 CL E G H | 255928 | 23143 | OMIM:614229 | Spinocerebellar ataxia, autosomal recessive 11 | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SZT2 CL E G H | 23334 | 29040 | OMIM:615476 | Epileptic encephalopathy, early infantile, 18 | . | | | 123 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 123 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 23 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TAF13 CL E G H | 6884 | 11546 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TAF13 CL E G H | 6884 | 11546 | OMIM:617432 | Mental retardation, autosomal recessive 60 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TAF2 CL E G H | 6873 | 11536 | OMIM:615599 | Mental retardation, autosomal recessive 40 | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TAF2 CL E G H | 6873 | 11536 | ORPHA:397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | HP:0040283 - Occasional | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | . | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040281 - Very frequent | | | 271 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | . | | | 271 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040283 - Occasional | | | 271 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:605021 | Myoclonic epilepsy, familial infantile | | | | 271 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | HP:0040283 - Occasional | | | 271 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:616944 | Mental retardation, autosomal dominant 41 | | | | 22 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | . | | | 22 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBR1 CL E G H | 10716 | 11590 | OMIM:606053 | Intellectual developmental disorder with autism and speech delay | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | | | | 55 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | HP:0040283 - Occasional | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | . | | | 76 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 31 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | HP:0040282 - Frequent | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | . | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TELO2 CL E G H | 9894 | 29099 | OMIM:616954 | You-Hoover-Fong syndrome | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 48 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 238 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 238 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TFAP2B CL E G H | 7021 | 11743 | OMIM:169100 | Char syndrome | . | | | 104 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040283 - Occasional | | | 104 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | THOC6 CL E G H | 79228 | 28369 | OMIM:613680 | Beaulieu-Boycott-Innes syndrome | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TIAM1 CL E G H | 7074 | 11805 | OMIM:619908 | | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TIMMDC1 CL E G H | 51300 | 1321 | OMIM:618251 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TKT CL E G H | 7086 | 11834 | OMIM:617044 | Short stature, developmental delay, and congenital heart defects | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TM4SF20 CL E G H | 79853 | 26230 | OMIM:615432 | SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617562 | Meckel syndrome 13 | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM199 CL E G H | 147007 | 18085 | OMIM:616829 | Congenital disorder of glycosylation, type IIP | HP:0040283 - Occasional | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 45 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 45 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM222 CL E G H | 84065 | 25363 | OMIM:619470 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | HP:0040280 - Obligate | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 33 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 82 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM38B CL E G H | 55151 | 25535 | OMIM:615066 | OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:615991 | Bardet-Biedl syndrome 14 | . | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | . | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TMX2 CL E G H | 51075 | 30739 | OMIM:618730 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618097 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | HP:0040284 - Very rare | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:618165 | Bone marrow failure syndrome 5 | . | | | 911 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TP53RK CL E G H | 112858 | 16197 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | . | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | HP:0040283 - Occasional | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TPRKB CL E G H | 51002 | 24259 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | OMIM:616629 | Senior-Loken syndrome 9 | HP:0040283 - Occasional | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC10 CL E G H | 7109 | 11868 | OMIM:620027 | | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC10 CL E G H | 7109 | 11868 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC14 CL E G H | 55262 | 25604 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC14 CL E G H | 55262 | 25604 | OMIM:618351 | Microcephaly 25, primary, autosomal recessive | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC4 CL E G H | 51399 | 19943 | OMIM:618741 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | | | | 158 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:618825 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63 | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | HP:0040284 - Very rare | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | . | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | . | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRMT10A CL E G H | 93587 | 28403 | OMIM:616033 | Microcephaly, short stature, and impaired glucose metabolism 1 | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSEN15 CL E G H | 116461 | 16791 | OMIM:617026 | Pontocerebellar hypoplasia, type 2F | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | | | | 102 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:225753 | Pontocerebellar hypoplasia, type 4 | | | | 102 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | . | | | 43 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 97 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:424 | Familial hyperthyroidism due to mutations in TSH receptor | HP:0040282 - Frequent | | | 97 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95720 | Thyroid hypoplasia | HP:0040282 - Frequent | | | 97 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | HP:0040283 - Occasional | | | 88 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:615985 | Bardet-Biedl syndrome 8 | . | | | 41 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | . | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 106 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBA8 CL E G H | 51807 | 12410 | ORPHA:250972 | Polymicrogyria with optic nerve hypoplasia | | | | 21 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:615771 | Cortical dysplasia, complex, with other brain malformations 6 | . | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB2A CL E G H | 7280 | 12412 | OMIM:615763 | Cortical dysplasia, complex, with other brain malformations 5 | . | | | 23 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | . | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | HP:0040282 - Frequent | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 39 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040281 - Very frequent | | | 64 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:614039 | Cortical dysplasia, complex, with other brain malformations 1 | . | | | 64 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | HP:0040283 - Occasional | | | 64 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 64 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBB4B CL E G H | 10383 | 20771 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBG1 CL E G H | 7283 | 12417 | OMIM:615412 | Cortical dysplasia, complex, with other brain malformations 4 | . | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBGCP4 CL E G H | 27229 | 16691 | OMIM:616335 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | . | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUBGCP6 CL E G H | 85378 | 18127 | OMIM:251270 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | . | | | 61 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | 66 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TUSC3 CL E G H | 7991 | 30242 | OMIM:611093 | Mental retardation, autosomal recessive 7 | | | | 76 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | . | | | 18 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:238446 | 15q11q13 microduplication syndrome | HP:0040281 - Very frequent | | | 278 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | . | | | 278 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040283 - Occasional | | | 278 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040281 - Very frequent | | | 278 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 278 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040281 - Very frequent | | | 13 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | HP:0040284 - Very rare | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:620028 | | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UMPS CL E G H | 7372 | 12563 | ORPHA:30 | Hereditary orotic aciduria | HP:0040281 - Very frequent | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UMPS CL E G H | 7372 | 12563 | OMIM:258900 | Orotic aciduria | HP:0040283 - Occasional | | | 135 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040281 - Very frequent | | | 23 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UPB1 CL E G H | 51733 | 16297 | OMIM:613161 | Beta-Ureidopropionase deficiency | . | | | 44 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UQCC3 CL E G H | 790955 | 34399 | OMIM:616111 | Mitochondrial complex III deficiency, nuclear type 9 | . | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | UQCRQ CL E G H | 27089 | 29594 | OMIM:615159 | Mitochondrial complex III deficiency, nuclear type 4 | . | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 173 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 78 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | USP45 CL E G H | 85015 | 20080 | ORPHA:65 | Leber congenital amaurosis | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040281 - Very frequent | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VAMP2 CL E G H | 6844 | 12643 | OMIM:618760 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | HP:0040283 - Occasional | | | 56 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VAX1 CL E G H | 11023 | 12660 | OMIM:614402 | Microphthalmia, syndromic 11 | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | . | | | 111 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS11 CL E G H | 55823 | 14583 | ORPHA:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040281 - Very frequent | | | 546 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620009 | | | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS37A CL E G H | 137492 | 24928 | OMIM:614898 | SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 | | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | HP:0040283 - Occasional | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | . | | | 32 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040281 - Very frequent | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040281 - Very frequent | | | 20 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WASHC4 CL E G H | 23325 | 29174 | OMIM:615817 | Mental retardation, autosomal recessive 43 | . | | | 25 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 95 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | HP:0040284 - Very rare | | | 136 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR4 CL E G H | 10785 | 12756 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR45B CL E G H | 56270 | 25072 | OMIM:617977 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR62 CL E G H | 284403 | 24502 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 224 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | . | | | 224 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 | . | | | 27 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WIPI2 CL E G H | 26100 | 32225 | OMIM:618453 | Intellectual developmental disorder with short stature and variable skeletal anomalies | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WNT1 CL E G H | 7471 | 12774 | OMIM:615220 | Osteogenesis imperfecta, type XV | | | | 12 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 40 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | . | | | 149 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 149 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:614322 | Spinocerebellar ataxia, autosomal recessive 12 | . | | | 149 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 125 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | YIF1B CL E G H | 90522 | 30511 | OMIM:619125 | KAYA-BARAKAT-MASSON SYNDROME; KABAMAS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | YIPF5 CL E G H | 81555 | 24877 | OMIM:619278 | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | YME1L1 CL E G H | 10730 | 12843 | OMIM:617302 | Optic atrophy 11 | . | | | 2 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | YWHAG CL E G H | 7532 | 12852 | OMIM:617665 | Epileptic encephalopathy, early infantile, 56 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | . | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZBTB11 CL E G H | 27107 | 16740 | OMIM:618383 | Intellectual developmental disorder, autosomal recessive 69 | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZBTB18 CL E G H | 10472 | 13030 | ORPHA:36367 | Distal monosomy 1q | HP:0040281 - Very frequent | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | . | | | 16 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZC4H2 CL E G H | 55906 | 24931 | ORPHA:3454 | Intellectual disability-developmental delay-contractures syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZFR CL E G H | 51663 | 17277 | ORPHA:401840 | Autosomal recessive spastic paraplegia type 71 | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | . | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | . | | | 34 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | . | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNF142 CL E G H | 7701 | 12927 | OMIM:618425 | Neurodevelopmental disorder with impaired speech and hyperkinetic movements | . | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | . | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | | | | 60 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 14 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 49 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | | | | 1 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040281 - Very frequent | | | 5 | | |
HP:0001263 | HP:0001263 | Global developmental delay | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | 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:0011344 | Severe global developmental delay | 1 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 415 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:79134 | DEND syndrome | HP:0040282 - Frequent | | | 245 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ACAD8 CL E G H | 27034 | 87 | ORPHA:79159 | Isobutyryl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 58 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | . | | | 72 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | | | | 116 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | | | | 26 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ADSL CL E G H | 158 | 291 | ORPHA:46 | Adenylosuccinate lyase deficiency | HP:0040281 - Very frequent | | | 118 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040281 - Very frequent | | | 60 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | | | | 1 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | HP:0040283 - Occasional | | | 104 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040282 - Frequent | | | 58 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | | | | 17 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ASPA CL E G H | 443 | 756 | ORPHA:314918 | Mild Canavan disease | HP:0040282 - Frequent | | | 48 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 168 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | C18ORF32 CL E G H | 497661 | 31690 | OMIM:619985 | | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | CACNA2D2 CL E G H | 9254 | 1400 | OMIM:618501 | Cerebellar atrophy with seizures and variable developmental delay | | | | 48 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040281 - Very frequent | | | 118 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | . | | | 31 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:619957 | | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 405 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 161 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 146 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040282 - Frequent | | | 6 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040282 - Frequent | | | 39 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | . | | | 4 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | CTNNA2 CL E G H | 1496 | 2510 | OMIM:618174 | Cortical dysplasia, complex, with other brain malformations 9 | . | | | 2 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 88 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 15 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040282 - Frequent | | | 108 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DALRD3 CL E G H | 55152 | 25536 | OMIM:618910 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86 | | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | DBR1 CL E G H | 51163 | 15594 | OMIM:619441 | ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11 | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | . | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | . | | | 6 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:204750 | 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD | | | | 12 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | . | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | | | | 33 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 151 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | . | | | 36 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | HP:0040281 - Very frequent | | | 145 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | FTCD CL E G H | 10841 | 3974 | ORPHA:51208 | Formiminoglutamic aciduria | HP:0040283 - Occasional | | | 65 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | | | | 70 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 109 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GABRG2 CL E G H | 2566 | 4087 | OMIM:618396 | Epileptic encephalopathy, early infantile, 74 | . | | | 139 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | . | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040282 - Frequent | | | 43 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 173 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | GLYCTK CL E G H | 132158 | 24247 | ORPHA:941 | D-glyceric aciduria | HP:0040283 - Occasional | | | 6 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GLYCTK CL E G H | 132158 | 24247 | ORPHA:941 | D-glyceric aciduria | HP:0040283 - Occasional | | | 6 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | | | | 18 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040281 - Very frequent | | | 108 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GRIN1 CL E G H | 2902 | 4584 | OMIM:619814 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101 | | | | 108 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | GRIN1 CL E G H | 2902 | 4584 | OMIM:619814 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101 | | | | 108 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | HP:0040282 - Frequent | | | 434 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GSX2 CL E G H | 170825 | 24959 | OMIM:618646 | DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2 | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | | | | 2 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | HAL CL E G H | 3034 | 4806 | ORPHA:2157 | Histidinemia | HP:0040284 - Very rare | | | 73 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 21 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040282 - Frequent | | | 19 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040282 - Frequent | | | 229 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 10 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 10 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79134 | DEND syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:439218 | KCNQ2-related epileptic encephalopathy | HP:0040282 - Frequent | | | 528 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | LAMB1 CL E G H | 3912 | 6486 | ORPHA:352682 | Cobblestone lissencephaly without muscular or ocular involvement | HP:0040282 - Frequent | | | 71 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | . | | | 71 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 43 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | LIAS CL E G H | 11019 | 16429 | OMIM:614462 | Hyperglycinemia, lactic acidosis, and seizures | . | | | 31 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | LIAS CL E G H | 11019 | 16429 | OMIM:614462 | Hyperglycinemia, lactic acidosis, and seizures | . | | | 31 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | . | | | 2 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | LSM11 CL E G H | 134353 | 30860 | OMIM:619486 | AICARDI-GOUTIERES SYNDROME 8; AGS8 | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 17 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | | | | 32 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040282 - Frequent | | | 88 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | NARS2 CL E G H | 79731 | 26274 | ORPHA:79134 | DEND syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 96 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 96 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | NECAP1 CL E G H | 25977 | 24539 | OMIM:615833 | Epileptic encephalopathy, early infantile, 21 | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | HP:0040281 - Very frequent | | | 52 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | | | | 1952 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | . | | | 55 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | NTRK2 CL E G H | 4915 | 8032 | OMIM:613886 | Obesity, hyperphagia, and developmental delay | . | | | 8 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:616896 | MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14 | | | | 214 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 41 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | . | | | 14 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 531 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | PDP1 CL E G H | 54704 | 9279 | ORPHA:79246 | Pyruvate dehydrogenase phosphatase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 169 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 75 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 65 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 66 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 46 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 59 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | . | | | 59 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 62 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 82 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 106 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | . | | | 47 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 99 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 98 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 37 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PLEKHG2 CL E G H | 64857 | 29515 | OMIM:616763 | Leukodystrophy and acquired microcephaly with or without dystonia | . | | | 3 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 36 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 54 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040281 - Very frequent | | | 27 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | PSMC3 CL E G H | 5702 | 9549 | OMIM:619354 | DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PSMC3 CL E G H | 5702 | 9549 | OMIM:619354 | DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040282 - Frequent | | | 53 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040281 - Very frequent | | | 11 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 334 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 334 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | | | | 33 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RNASET2 CL E G H | 8635 | 21686 | OMIM:612951 | Leukoencephalopathy, cystic, without megalencephaly | HP:0040283 - Occasional | | | 37 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | RNF168 CL E G H | 165918 | 26661 | OMIM:611943 | Riddle syndrome | | | | 7 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040282 - Frequent | | | 113 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 304 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 129 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 6 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 66 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040281 - Very frequent | | | 143 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | . | | | 57 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | HP:0040281 - Very frequent | | | 36 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:619303 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E | | | | 14 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | | | | 48 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040281 - Very frequent | | | 11 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040281 - Very frequent | | | 93 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040283 - Occasional | | | 24 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040283 - Occasional | | | | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | | | | 28 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040281 - Very frequent | | | 12 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | TELO2 CL E G H | 9894 | 29099 | OMIM:616954 | You-Hoover-Fong syndrome | . | | | 12 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040281 - Very frequent | | | 63 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | TOP3A CL E G H | 7156 | 11992 | OMIM:618097 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | | | | | | |
HP:0001263 | HP:0011343 | Moderate global developmental delay | 1 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | . | | | 2 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040281 - Very frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 3 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 84 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 57 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 102 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | . | | | 102 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TSEN54 CL E G H | 283989 | 27561 | OMIM:225753 | Pontocerebellar hypoplasia, type 4 | . | | | 102 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TUBA8 CL E G H | 51807 | 12410 | ORPHA:250972 | Polymicrogyria with optic nerve hypoplasia | HP:0040281 - Very frequent | | | 21 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TUBB2A CL E G H | 7280 | 12412 | OMIM:615763 | Cortical dysplasia, complex, with other brain malformations 5 | . | | | 23 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040282 - Frequent | | | 64 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | . | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | . | | | 23 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | WASHC4 CL E G H | 23325 | 29174 | OMIM:615817 | Mental retardation, autosomal recessive 43 | | | | 25 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | . | | | | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | . | | | 60 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0001263 | HP:0011342 | Mild global developmental delay | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0001263 | HP:0012736 | Profound global developmental delay | 1 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0001263 | HP:0011344 | Severe global developmental delay | 1 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |