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:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | . | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 116 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 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:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ARV1 CL E G H | 64801 | 29561 | OMIM:617020 | Epileptic encephalopathy, early infantile, 38 | . | | | 3 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ATIC CL E G H | 471 | 794 | OMIM:608688 | Aicar transformylase/imp cyclohydrolase deficiency | . | | | 4 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | CCDC88A CL E G H | 55704 | 25523 | OMIM:617507 | Peho-Like syndrome | . | | | 1 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | . | | | 405 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | CLIC2 CL E G H | 1193 | 2063 | OMIM:300886 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 | | | | 4 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | CNPY3 CL E G H | 10695 | 11968 | OMIM:617929 | Epileptic encephalopathy, early infantile, 60 | . | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:618663 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81 | | | | 3 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | HP:0040282 - Frequent | | | 9 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | . | | | 62 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | . | | | 199 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040281 - Very frequent | | | 145 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | . | | | 145 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | . | | | 157 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | . | | | 2 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:612233 | Leukodystrophy, hypomyelinating, 4 | . | | | 46 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | . | | | 6 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040282 - Frequent | | | 8 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | . | | | 950 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | MED23 CL E G H | 9439 | 2372 | OMIM:614249 | Mental retardation, autosomal recessive 18 | | | | 25 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | NACC1 CL E G H | 112939 | 20967 | ORPHA:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | HP:0040282 - Frequent | | | 1 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | NAPB CL E G H | 63908 | 15751 | OMIM:620033 | | | | | 2 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:614019 | Lissencephaly 4 | . | | | 96 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | NSF CL E G H | 4905 | 8016 | OMIM:619340 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96 | | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | . | | | 201 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040283 - Occasional | | | 231 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PCDH12 CL E G H | 51294 | 8657 | OMIM:251280 | Microcephaly, seizures, spasticity, and brain calcifications | . | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | HP:0040283 - Occasional | | | 225 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040282 - Frequent | | | 88 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PIGG CL E G H | 54872 | 25985 | OMIM:616917 | Mental retardation, autosomal recessive 53 | | | | 7 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PIGP CL E G H | 51227 | 3046 | OMIM:617599 | Epileptic encephalopathy, early infantile, 55 | . | | | 2 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PIK3R2 CL E G H | 5296 | 8980 | OMIM:603387 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome | . | | | 12 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | . | | | 221 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040281 - Very frequent | | | 49 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | | | | 8 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PUS3 CL E G H | 83480 | 25461 | OMIM:617051 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55 | | | | 1 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614558 | Epileptic encephalopathy, early infantile, 13 | | | | 357 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | . | | | 66 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:436151 | Intellectual disability-expressive aphasia-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SETD1B CL E G H | 23067 | 29187 | OMIM:619000 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD | | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | . | | | 3 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SLC39A8 CL E G H | 64116 | 20862 | OMIM:616721 | Congenital disorder of glycosylation, type IIN | . | | | 11 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040281 - Very frequent | | | 11 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040281 - Very frequent | | | 93 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040284 - Very rare | | | 19 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | . | | | 416 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ST3GAL3 CL E G H | 6487 | 10866 | OMIM:615006 | Epileptic encephalopathy, early infantile, 15 | . | | | 41 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | | | | 237 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:617389 | Epileptic encephalopathy, early infantile, 53 | . | | | 9 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040283 - Occasional | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 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:0002187 | HP:0002187 | Intellectual disability, profound | 0 | TRAPPC4 CL E G H | 51399 | 19943 | OMIM:618741 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA | | | | 1 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 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:0002187 | HP:0002187 | Intellectual disability, profound | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | . | | | 23 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | . | | | 26 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | WASHC4 CL E G H | 23325 | 29174 | OMIM:615817 | Mental retardation, autosomal recessive 43 | | | | 25 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | WDR45B CL E G H | 56270 | 25072 | OMIM:617977 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | . | | | 1 | | |
HP:0002187 | HP:0002187 | Intellectual disability, profound | 0 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | | | | 1 | | |