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:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 245 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040284 - Very rare | | | 91 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040281 - Very frequent | | | 120 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ACSL4 CL E G H | 2182 | 3571 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:619651 | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD | | | | 25 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 88 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AHSG CL E G H | 197 | 349 | OMIM:203650 | Alopecia-Mental retardation syndrome 1 | . | | | 5 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 19 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | . | | | 96 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619031 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF | | | | 12 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AMMECR1 CL E G H | 9949 | 467 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ANKLE2 CL E G H | 23141 | 29101 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040281 - Very frequent | | | 49 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | . | | | 49 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040281 - Very frequent | | | 48 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | . | | | 48 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040281 - Very frequent | | | 41 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | . | | | 41 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040281 - Very frequent | | | 18 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | . | | | 18 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | . | | | 179 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ARG1 CL E G H | 383 | 663 | ORPHA:90 | Argininemia | HP:0040281 - Very frequent | | | 31 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ARHGEF9 CL E G H | 23229 | 14561 | OMIM:300607 | Epileptic encephalopathy, early infantile, 8 | . | | | 45 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | . | | | 166 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300419 | Mental retardation, X-linked, with or without seizures, arx-related | | | | 166 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ASPM CL E G H | 259266 | 19048 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 512 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ATIC CL E G H | 471 | 794 | ORPHA:250977 | AICA-ribosiduria | HP:0040281 - Very frequent | | | 4 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | BCAP31 CL E G H | 10134 | 16695 | OMIM:300475 | Deafness, dystonia, and cerebral hypomyelination | . | | | 8 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | | | | 17 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:618095 | Mental retardation, autosomal recessive 63 | . | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CC2D1A CL E G H | 54862 | 30237 | OMIM:608443 | Mental retardation, autosomal recessive 3 | | | | 57 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 181 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CDK6 CL E G H | 1021 | 1777 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 6 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 161 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CEP135 CL E G H | 9662 | 29086 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 38 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CEP135 CL E G H | 9662 | 29086 | OMIM:614673 | Microcephaly 8, primary, autosomal recessive | . | | | 38 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 146 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CEP63 CL E G H | 80254 | 25815 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 31 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CEP85L CL E G H | 387119 | 21638 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CHRNA7 CL E G H | 1139 | 1960 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | 52 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CIT CL E G H | 11113 | 1985 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 15 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040282 - Frequent | | | 79 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | COPB2 CL E G H | 9276 | 2232 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 104 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CRBN CL E G H | 51185 | 30185 | OMIM:607417 | Mental retardation, autosomal recessive 2 | . | | | 19 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CTNNA2 CL E G H | 1496 | 2510 | OMIM:618174 | Cortical dysplasia, complex, with other brain malformations 9 | . | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 15 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | . | | | 159 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CUL3 CL E G H | 8452 | 2553 | OMIM:619239 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS | | | | 92 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040281 - Very frequent | | | 38 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | HP:0040282 - Frequent | | | 108 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040282 - Frequent | | | 108 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | HP:0003577 - Congenital onset | | 152 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040283 - Occasional | | | 44 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040282 - Frequent | | | 38 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 33 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | . | | | 223 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | EML1 CL E G H | 2009 | 3330 | OMIM:600348 | Band heterotopia | . | | | 3 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | EPB41L1 CL E G H | 2036 | 3378 | OMIM:614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | | | | 29 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 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:0010864 | HP:0010864 | Intellectual disability, severe | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:466926 | Seizures-scoliosis-macrocephaly syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | HP:0040281 - Very frequent | | | 145 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:272 | Congenital muscular dystrophy, Fukuyama type | HP:0040281 - Very frequent | | | 184 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 9 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040281 - Very frequent | | | 177 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 61 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | | | | 4 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FTCD CL E G H | 10841 | 3974 | ORPHA:51208 | Formiminoglutamic aciduria | HP:0040283 - Occasional | | | 65 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | HP:0040281 - Very frequent | | | 43 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | | | | 33 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 237 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GDI1 CL E G H | 2664 | 4226 | OMIM:300849 | MENTAL RETARDATION, X-LINKED 41; MRX41 | | | | 20 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | HP:0040281 - Very frequent | | | 270 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | . | | | 34 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GNB5 CL E G H | 10681 | 4401 | ORPHA:542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619931 | | | | | 3 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | . | | | 30 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040282 - Frequent | | | 108 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | . | | | 108 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | . | | | 108 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | HP:0040282 - Frequent | | | 434 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040283 - Occasional | | | 35 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | HNMT CL E G H | 3176 | 5028 | OMIM:616739 | Mental retardation, autosomal recessive 51 | . | | | 3 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040282 - Frequent | | | 8 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040282 - Frequent | | | 8 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:75858 | MORM syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 62 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | IQSEC1 CL E G H | 9922 | 29112 | OMIM:618687 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 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:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:603736 | Ohdo syndrome, sbbys variant | . | | | 141 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KCNE5 CL E G H | 23630 | 6241 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | HP:0040283 - Occasional | | | 13 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 127 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | . | | | 3 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | HP:0040281 - Very frequent | | | 81 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KIF14 CL E G H | 9928 | 19181 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 9 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | . | | | 167 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KLF13 CL E G H | 51621 | 13672 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | KNL1 CL E G H | 57082 | 24054 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 112 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius | HP:0040281 - Very frequent | | | 134 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | L2HGDH CL E G H | 79944 | 20499 | ORPHA:79314 | L-2-hydroxyglutaric aciduria | HP:0040281 - Very frequent | | | 34 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | . | | | 34 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | LARP7 CL E G H | 51574 | 24912 | OMIM:615071 | Alazami syndrome | . | | | 16 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | LINGO1 CL E G H | 84894 | 21205 | OMIM:618103 | Mental retardation, autosomal recessive 64 | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 21 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | LMAN2L CL E G H | 81562 | 19263 | OMIM:616887 | Mental retardation, autosomal recessive 52 | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040281 - Very frequent | | | 165 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MACF1 CL E G H | 23499 | 13664 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040281 - Very frequent | | | 252 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MCM7 CL E G H | 4176 | 6950 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MCPH1 CL E G H | 79648 | 6954 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 155 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300673 | Encephalopathy, neonatal severe, due to mecp2 mutations | . | | | 950 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | . | | | 132 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | METTL5 CL E G H | 29081 | 25006 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | METTL5 CL E G H | 29081 | 25006 | OMIM:618665 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72 | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MFSD2A CL E G H | 84879 | 25897 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | . | | | 5 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 29 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 68 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 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:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | HP:0040281 - Very frequent | | | 47 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609241 | Schindler disease, type I | . | | | 47 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NCAPD3 CL E G H | 23310 | 28952 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 91 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 3 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 26 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 34 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 39 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 81 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 22 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 38 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 74 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040284 - Very rare | | | 43 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | . | | | 55 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 494 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 51 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 90 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:225250 | Hypothyroidism, congenital, nongoitrous, 5 | . | | | 90 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | HP:0040282 - Frequent | | | 90 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NRXN1 CL E G H | 9378 | 8008 | OMIM:614325 | Pitt-Hopkins-Like syndrome 2 | . | | | 470 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 544 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 118 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | NTRK2 CL E G H | 4915 | 8032 | OMIM:617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58 | | | | 8 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040282 - Frequent | | | 231 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | HP:0040281 - Very frequent | | | 641 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PAK1 CL E G H | 5058 | 8590 | OMIM:618158 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 63 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | HP:0040282 - Frequent | | | 63 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95720 | Thyroid hypoplasia | HP:0040282 - Frequent | | | 63 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | HP:0040283 - Occasional | | | 225 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PCNA CL E G H | 5111 | 8729 | ORPHA:438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 88 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040283 - Occasional | | | 98 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 30 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 6 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 72 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | . | | | 8 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PHC1 CL E G H | 1911 | 3182 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 16 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | . | | | 29 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 45 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | . | | | 57 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 162 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PLEKHG2 CL E G H | 64857 | 29515 | OMIM:616763 | Leukodystrophy and acquired microcephaly with or without dystonia | . | | | 3 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280210 | Pelizaeus-Merzbacher disease, connatal form | HP:0040281 - Very frequent | | | 60 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280224 | Pelizaeus-Merzbacher disease, transitional form | HP:0040282 - Frequent | | | 60 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:613402 | Microcephaly, seizures, and developmental delay | | | | 244 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | . | | | 221 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | | | | 13 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93950 | X-linked intellectual disability, Sutherland-Haan type | HP:0040282 - Frequent | | | 28 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PRSS12 CL E G H | 8492 | 9477 | OMIM:249500 | Mental retardation, autosomal recessive 1 | | | | 73 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PSMB1 CL E G H | 5689 | 9537 | OMIM:620038 | | | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 948 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040282 - Frequent | | | 53 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PUS3 CL E G H | 83480 | 25461 | OMIM:617051 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55 | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 11 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RAB5IF CL E G H | 55969 | 15870 | OMIM:616994 | | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RAC3 CL E G H | 5881 | 9803 | OMIM:618577 | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | . | | | 92 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ROGDI CL E G H | 79641 | 29478 | ORPHA:1946 | Amelocerebrohypohidrotic syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | . | | | 57 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040282 - Frequent | | | 113 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SASS6 CL E G H | 163786 | 25403 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 4 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | HP:0040282 - Frequent | | | 34 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:607208 | Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) | | | | 1053 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614558 | Epileptic encephalopathy, early infantile, 13 | | | | 357 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 304 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 6 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:436151 | Intellectual disability-expressive aphasia-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SHROOM4 CL E G H | 57477 | 29215 | ORPHA:85288 | X-linked intellectual disability, Stocco Dos Santos type | HP:0040282 - Frequent | | | 42 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:1946 | Amelocerebrohypohidrotic syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | . | | | 57 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 110 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | | | | 3 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 274 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95720 | Thyroid hypoplasia | HP:0040282 - Frequent | | | 274 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040282 - Frequent | | | 27 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC35A3 CL E G H | 23443 | 11023 | ORPHA:370943 | Autism spectrum disorder-epilepsy-arthrogryposis syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | . | | | 71 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040282 - Frequent | | | 71 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | . | | | 12 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 617 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | . | | | 94 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | . | | | 37 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SOBP CL E G H | 55084 | 29256 | OMIM:613671 | Mental retardation, anterior maxillary protrusion, and strabismus | . | | | 29 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SPATA5 CL E G H | 166378 | 18119 | OMIM:616577 | Epilepsy, hearing loss, and mental retardation syndrome | . | | | 19 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | . | | | 416 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | . | | | 80 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 110 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | STIL CL E G H | 6491 | 10879 | OMIM:612703 | Microcephaly 7, primary, autosomal recessive | | | | 99 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | | | | 40 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 73 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 23 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TAF13 CL E G H | 6884 | 11546 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TBR1 CL E G H | 10716 | 11590 | OMIM:606053 | Intellectual developmental disorder with autism and speech delay | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | . | | | 241 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040281 - Very frequent | | | 12 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | HP:0040281 - Very frequent | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | . | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TMX2 CL E G H | 51075 | 30739 | OMIM:618730 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS | | | | 2 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TRAPPC10 CL E G H | 7109 | 11868 | OMIM:620027 | | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TRAPPC10 CL E G H | 7109 | 11868 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TRAPPC14 CL E G H | 55262 | 25604 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | . | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95713 | Athyreosis | HP:0040282 - Frequent | | | 97 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95720 | Thyroid hypoplasia | HP:0040282 - Frequent | | | 97 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | | | | 11 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TUBA1A CL E G H | 7846 | 20766 | OMIM:611603 | Lissencephaly 3 | . | | | 106 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | TUSC3 CL E G H | 7991 | 30242 | OMIM:611093 | Mental retardation, autosomal recessive 7 | | | | 76 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | . | | | 13 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | . | | | 278 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | UBE4A CL E G H | 9354 | 12499 | OMIM:619639 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 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:0010864 | HP:0010864 | Intellectual disability, severe | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040281 - Very frequent | | | 23 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | UQCRQ CL E G H | 27089 | 29594 | OMIM:615159 | Mitochondrial complex III deficiency, nuclear type 4 | . | | | 34 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | WDR62 CL E G H | 284403 | 24502 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 224 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 | . | | | 27 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | WIPI2 CL E G H | 26100 | 32225 | OMIM:618453 | Intellectual developmental disorder with short stature and variable skeletal anomalies | | | | | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | | | | 16 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0010864 | HP:0010864 | Intellectual disability, severe | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 1 | | |