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:0002376 | HP:0002376 | Developmental regression | 0 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040281 - Very frequent | | | 120 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:820 | Sneddon syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | HP:0040283 - Occasional | | | 116 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 116 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 530 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | . | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | . | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | HP:0003593 - Infantile onset | | 60 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARHGEF9 CL E G H | 23229 | 14561 | ORPHA:163985 | Hyperekplexia-epilepsy syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 253 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 253 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 253 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040283 - Occasional | | | 78 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ASPA CL E G H | 443 | 756 | OMIM:271900 | Canavan disease | | | | 48 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:104290 | Alternating hemiplegia of childhood 1 | | | | 239 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 239 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 150 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP5MK CL E G H | 84833 | 30889 | OMIM:618683 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ATP7A CL E G H | 538 | 869 | OMIM:309400 | Menkes disease | | | | 192 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | . | | | 14 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | . | | | 105 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 449 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CACNA1B CL E G H | 774 | 1389 | OMIM:618497 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | . | | | 5 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CACNA1E CL E G H | 777 | 1392 | OMIM:618285 | Developmental and epileptic encephalopathy 69 | | | | 11 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 59 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | . | | | 10 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040282 - Frequent | | | 35 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 118 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 405 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | . | | | 405 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 405 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 405 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CHD2 CL E G H | 1106 | 1917 | OMIM:615369 | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC | | | | 227 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CIC CL E G H | 23152 | 14214 | OMIM:617600 | Mental retardation, autosomal dominant 45 | . | | | 39 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | . | | | 141 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:600143 | Ceroid lipofuscinosis, neuronal, 8 | . | | | 111 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | | | | 111 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040282 - Frequent | | | 38 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | HP:0040283 - Occasional | | | 38 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 18 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CNPY3 CL E G H | 10695 | 11968 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | COA8 CL E G H | 84334 | 20492 | OMIM:619061 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040282 - Frequent | | | 39 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | HP:0040282 - Frequent | | | 136 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040283 - Occasional | | | 273 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 30 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 47 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040284 - Very rare | | | 25 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DNM1 CL E G H | 1759 | 2972 | OMIM:616346 | Epileptic encephalopathy, early infantile, 31 | . | | | 72 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 72 | | |
HP:0002376 | HP:0002376 | Developmental regression | 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:0002376 | HP:0002376 | Developmental regression | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040283 - Occasional | | | 44 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 42 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 24 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 32 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 38 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 48 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF3F CL E G H | 8665 | 3275 | OMIM:618295 | Intellectual developmental disorder, autosomal recessive 67 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 106 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 54 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 158 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 83 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | . | | | 42 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | HP:0040282 - Frequent | | | 42 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040283 - Occasional | | | 36 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FGF12 CL E G H | 2257 | 3668 | OMIM:617166 | Epileptic encephalopathy, early infantile, 47 | . | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FITM2 CL E G H | 128486 | 16135 | OMIM:618635 | SIDDIQI SYNDROME; SIDDIS | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FOLR1 CL E G H | 2348 | 3791 | OMIM:613068 | Neurodegeneration due to cerebral folate transport deficiency | . | | | 47 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040281 - Very frequent | | | 177 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FRRS1L CL E G H | 23732 | 1362 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040282 - Frequent | | | 4 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | . | | | 4 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617903 | Neurodevelopmental disorder with poor language and loss of hand skills | . | | | 5 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRB1 CL E G H | 2560 | 4081 | OMIM:617153 | Epileptic encephalopathy, early infantile, 45 | . | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 44 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 10 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 139 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 139 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 139 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 115 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | . | | | 188 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | . | | | 43 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040281 - Very frequent | | | 120 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | HP:0040283 - Occasional | | | 17 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040281 - Very frequent | | | 69 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GNB1 CL E G H | 2782 | 4396 | ORPHA:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040284 - Very rare | | | 108 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040282 - Frequent | | | 434 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GRIN2A CL E G H | 2903 | 4585 | OMIM:245570 | EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD | | | | 434 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040282 - Frequent | | | 434 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GRIN2B CL E G H | 2904 | 4586 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 274 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | GUF1 CL E G H | 60558 | 25799 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | | | | 10 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 54 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HIBCH CL E G H | 26275 | 4908 | OMIM:250620 | 3-Hydroxyisobutyryl-Coa hydrolase deficiency | . | | | 32 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HNRNPU CL E G H | 3192 | 5048 | OMIM:617391 | Epileptic encephalopathy, early infantile, 54 | | | | 39 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040282 - Frequent | | | 19 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | . | | | 19 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040284 - Very rare | | | 86 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | HP:0040283 - Occasional | | | 28 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IQSEC2 CL E G H | 23096 | 29059 | OMIM:309530 | Mental retardation, X-linked 1 | | | | 119 | | |
HP:0002376 | HP:0002376 | Developmental regression | 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:0002376 | HP:0002376 | Developmental regression | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | . | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | . | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 145 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | . | | | 321 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCNT2 CL E G H | 343450 | 18866 | OMIM:617771 | Epileptic encephalopathy, early infantile, 57 | . | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | | | | 106 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KCTD7 CL E G H | 154881 | 21957 | ORPHA:263516 | Progressive myoclonic epilepsy type 3 | HP:0040282 - Frequent | | | 106 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | . | | | 34 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:620089 | | | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | | | | 21 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040282 - Frequent | | | 191 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | . | | | 950 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MFF CL E G H | 56947 | 24858 | OMIM:617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | | | | 17 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 17 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040284 - Very rare | | | 101 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | . | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | . | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NACC1 CL E G H | 112939 | 20967 | ORPHA:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | HP:0040281 - Very frequent | | | 47 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609241 | Schindler disease, type I | . | | | 47 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | . | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | . | | | 9 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NBEA CL E G H | 26960 | 7648 | OMIM:619157 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE | | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 31 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618239 | Mitochondrial complex I deficiency, nuclear type 17 | HP:0040284 - Very rare | | | 39 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | . | | | 81 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFS2 CL E G H | 4720 | 7708 | OMIM:618228 | Mitochondrial complex I deficiency, nuclear type 6 | . | | | 65 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | . | | | 27 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFS7 CL E G H | 374291 | 7714 | OMIM:618224 | Mitochondrial complex I deficiency, nuclear type 3 | . | | | 38 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | . | | | 74 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NDUFV2 CL E G H | 4729 | 7717 | OMIM:618229 | Mitochondrial complex I deficiency, nuclear type 7 | . | | | 27 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NRXN1 CL E G H | 9378 | 8008 | OMIM:614325 | Pitt-Hopkins-Like syndrome 2 | . | | | 470 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 8 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 7 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NUP62 CL E G H | 23636 | 8066 | OMIM:271930 | Striatonigral degeneration, infantile | . | | | 7 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040283 - Occasional | | | 231 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 225 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PCDH19 CL E G H | 57526 | 14270 | OMIM:300088 | Epileptic encephalopathy, early infantile, 9 | . | | | 225 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PCYT2 CL E G H | 5833 | 8756 | OMIM:618770 | SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 169 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 75 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 4 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 65 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 66 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 46 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 59 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 62 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 82 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 106 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 99 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 98 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 72 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PHACTR1 CL E G H | 221692 | 20990 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 45 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040281 - Very frequent | | | 133 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | . | | | 133 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PLCB1 CL E G H | 23236 | 15917 | OMIM:613722 | Epileptic encephalopathy, early infantile, 12 | | | | 119 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PLCB1 CL E G H | 23236 | 15917 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | . | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 244 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | HP:0040283 - Occasional | | | 10 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:726 | Alpers-Huttenlocher syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | . | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 81 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 81 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 81 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PTCD3 CL E G H | 55037 | 24717 | OMIM:619057 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RANBP2 CL E G H | 5903 | 9848 | ORPHA:88619 | Familial acute necrotizing encephalopathy | HP:0040282 - Frequent | | | 57 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ROGDI CL E G H | 79641 | 29478 | ORPHA:1946 | Amelocerebrohypohidrotic syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619228 | DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 1053 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:607208 | Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) | | | | 1053 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 1053 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 126 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 126 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 126 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 427 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 427 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 427 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 427 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 70 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614558 | Epileptic encephalopathy, early infantile, 13 | . | | | 357 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 357 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 318 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 318 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 40 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHAF1 CL E G H | 644096 | 33867 | OMIM:619166 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2 | | | | 16 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SELENOI CL E G H | 85465 | 29361 | OMIM:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616645 | Epileptic encephalopathy, early infantile, 34 | . | | | 8 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:1946 | Amelocerebrohypohidrotic syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | HP:0040283 - Occasional | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC25A42 CL E G H | 284439 | 28380 | OMIM:618416 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | . | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 68 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | . | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | . | | | 5 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040281 - Very frequent | | | 93 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040284 - Very rare | | | 74 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SPTAN1 CL E G H | 6709 | 11273 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 416 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ST3GAL3 CL E G H | 6487 | 10866 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | STX1B CL E G H | 112755 | 18539 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 9 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040281 - Very frequent | | | 80 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | 73 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SYNGAP1 CL E G H | 8831 | 11497 | OMIM:612621 | Mental retardation, autosomal dominant 5 | . | | | 108 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 9 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 123 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TANC2 CL E G H | 26115 | 30212 | OMIM:618906 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | . | | | 271 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | HP:0040282 - Frequent | | | 271 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBC1D2B CL E G H | 23102 | 29183 | OMIM:619323 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0002376 | HP:0002376 | Developmental regression | 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:0002376 | HP:0002376 | Developmental regression | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TMLHE CL E G H | 55217 | 18308 | OMIM:300872 | Autism, susceptibility to, X-linked 6 | . | | | 10 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:204500 | Ceroid lipofuscinosis, neuronal, 2 | . | | | 203 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | . | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | . | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | . | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 31 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TTPA CL E G H | 7274 | 12404 | ORPHA:96 | Ataxia with vitamin E deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TUFM CL E G H | 7284 | 12420 | OMIM:610678 | Combined oxidative phosphorylation deficiency 4 | | | | 55 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 22 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | HP:0040281 - Very frequent | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | . | | | 6 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 149 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 34 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 86 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | | | | 16 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0002376 | HP:0002376 | Developmental regression | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0002376 | HP:0034332 | Cognitive regression | 1 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | SELENOI CL E G H | 85465 | 29361 | OMIM:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 | | | | | | |
HP:0002376 | HP:0033044 | Motor regression | 1 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | | | | | |