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:0011097 | HP:0011097 | Epileptic spasm | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | | | | 2 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 19 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ALDH7A1 CL E G H | 501 | 877 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040283 - Occasional | | | 227 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ALG13 CL E G H | 79868 | 30881 | ORPHA:324422 | ALG13-CDG | | | | 96 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619031 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF | | | | 12 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | | | | 46 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ARFGEF1 CL E G H | 10565 | 15772 | OMIM:619964 | | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:3451 | Infantile spasms syndrome | | | | 166 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ARX CL E G H | 170302 | 18060 | OMIM:309510 | Partington syndrome | | | | 166 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ASPA CL E G H | 443 | 756 | OMIM:271900 | Canavan disease | | | | 48 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619971 | | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619970 | | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ATP7A CL E G H | 538 | 869 | OMIM:309400 | Menkes disease | | | | 192 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | | | | 223 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | | | | 405 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | | | | 405 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3451 | Infantile spasms syndrome | | | | 405 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CELF2 CL E G H | 10659 | 2550 | OMIM:619561 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CEP85L CL E G H | 387119 | 21638 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | | | | 45 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CNPY3 CL E G H | 10695 | 11968 | OMIM:617929 | Epileptic encephalopathy, early infantile, 60 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CNPY3 CL E G H | 10695 | 11968 | ORPHA:3451 | Infantile spasms syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | CUL3 CL E G H | 8452 | 2553 | OMIM:619239 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS | | | | 92 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | D2HGDH CL E G H | 728294 | 28358 | OMIM:600721 | D-2-Hydroxyglutaric aciduria 1 | | | | 102 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | DCX CL E G H | 1641 | 2714 | ORPHA:2148 | Lissencephaly type 1 due to doublecortin gene mutation | | | | 145 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98820 | Familial focal epilepsy with variable foci | | | | 172 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:618731 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC | | | | 2 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:618663 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81 | | | | 3 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616409 | Epileptic encephalopathy, early infantile, 33 | | | | 60 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040282 - Frequent | | | 223 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:278780 | Xeroderma pigmentosum, complementation group G | | | | 83 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | | | | 12 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | | | | 5 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | | | | 5 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GABRB3 CL E G H | 2562 | 4083 | OMIM:617113 | Epileptic encephalopathy, early infantile, 43 | | | | 57 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | | | | 115 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | | | | 108 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | HP:0040283 - Occasional | | | 434 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GRIN2B CL E G H | 2904 | 4586 | OMIM:616139 | Epileptic encephalopathy, early infantile, 27 | | | | 274 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GRIN2B CL E G H | 2904 | 4586 | ORPHA:3451 | Infantile spasms syndrome | | | | 274 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | GUF1 CL E G H | 60558 | 25799 | ORPHA:3451 | Infantile spasms syndrome | | | | 2 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | | | | 32 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | KCNB1 CL E G H | 3745 | 6231 | OMIM:616056 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26 | | | | 65 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:439218 | KCNQ2-related epileptic encephalopathy | HP:0040282 - Frequent | | | 528 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | KCNQ5 CL E G H | 56479 | 6299 | OMIM:617601 | Mental retardation, autosomal dominant 46 | | | | 5 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | | | | 276 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 8 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | MACF1 CL E G H | 23499 | 13664 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 2 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | | | | 4 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | | | | 950 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | MFF CL E G H | 56947 | 24858 | OMIM:617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | | | | 17 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040283 - Occasional | | | 17 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | | | | 39 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 68 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NCDN CL E G H | 23154 | 17597 | OMIM:619373 | NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NDUFAF8 CL E G H | 284184 | 33551 | OMIM:618776 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NPRL2 CL E G H | 10641 | 24969 | ORPHA:98820 | Familial focal epilepsy with variable foci | | | | 4 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NPRL3 CL E G H | 8131 | 14124 | ORPHA:98820 | Familial focal epilepsy with variable foci | | | | 7 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NSF CL E G H | 4905 | 8016 | OMIM:619340 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:3451 | Infantile spasms syndrome | | | | 8 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | | | | 231 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 88 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PHACTR1 CL E G H | 221692 | 20990 | ORPHA:3451 | Infantile spasms syndrome | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 37 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:3451 | Infantile spasms syndrome | | | | 46 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 162 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PLCB1 CL E G H | 23236 | 15917 | OMIM:613722 | Epileptic encephalopathy, early infantile, 12 | | | | 119 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PLCB1 CL E G H | 23236 | 15917 | ORPHA:3451 | Infantile spasms syndrome | | | | 119 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PLPBP CL E G H | 11212 | 9457 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040283 - Occasional | | | 6 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | | | | 2 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040283 - Occasional | | | 53 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:3451 | Infantile spasms syndrome | | | | 427 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614558 | Epileptic encephalopathy, early infantile, 13 | . | | | 357 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1935 | Early myoclonic encephalopathy | | | | 11 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:3451 | Infantile spasms syndrome | | | | 11 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:263410 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | | | | 110 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | | | | 3 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SLC25A10 CL E G H | 1468 | 10980 | OMIM:618972 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1935 | Early myoclonic encephalopathy | | | | 166 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | | | | 135 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | | 19 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SPTAN1 CL E G H | 6709 | 11273 | ORPHA:3451 | Infantile spasms syndrome | | | | 416 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ST3GAL3 CL E G H | 6487 | 10866 | OMIM:615006 | Epileptic encephalopathy, early infantile, 15 | . | | | 41 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ST3GAL3 CL E G H | 6487 | 10866 | ORPHA:3451 | Infantile spasms syndrome | | | | 41 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | | | | 6 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | | | | 12 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:616944 | Mental retardation, autosomal dominant 41 | | | | 22 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 2738 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 106 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TUBA8 CL E G H | 51807 | 12410 | ORPHA:250972 | Polymicrogyria with optic nerve hypoplasia | | | | 21 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 39 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 64 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | TUBG1 CL E G H | 7283 | 12417 | OMIM:615412 | Cortical dysplasia, complex, with other brain malformations 4 | | | | 14 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:620028 | | | | | 2 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:3451 | Infantile spasms syndrome | | | | 51 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0011097 | HP:0011097 | Epileptic spasm | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | | | | 1 | | |
HP:0011097 | HP:0032843 | Focal-onset epileptic spasm | 1 | CL E G H | | | | | | | | | | |
HP:0011097 | HP:0032842 | Generalized-onset epileptic spasm | 1 | CL E G H | | | | | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | HP:0040284 - Very rare | | | 2 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 88 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ALG13 CL E G H | 79868 | 30881 | ORPHA:324422 | ALG13-CDG | HP:0040280 - Obligate | | | 96 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:619031 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF | | | | 12 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | APC2 CL E G H | 10297 | 24036 | OMIM:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 | | | | 1 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ARFGEF1 CL E G H | 10565 | 15772 | OMIM:619964 | | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ARX CL E G H | 170302 | 18060 | OMIM:309510 | Partington syndrome | | | | 166 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040284 - Very rare | | | 78 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 118 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 405 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 405 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 405 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CEP85L CL E G H | 387119 | 21638 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 1 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CNPY3 CL E G H | 10695 | 11968 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | CUL3 CL E G H | 8452 | 2553 | OMIM:619239 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS | | | | 92 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | D2HGDH CL E G H | 728294 | 28358 | OMIM:600721 | D-2-Hydroxyglutaric aciduria 1 | | | | 102 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | DCX CL E G H | 1641 | 2714 | ORPHA:2148 | Lissencephaly type 1 due to doublecortin gene mutation | HP:0040282 - Frequent | | | 145 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040283 - Occasional | | | 172 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | DHX37 CL E G H | 57647 | 17210 | OMIM:618731 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC | | | | 2 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | DMXL2 CL E G H | 23312 | 2938 | OMIM:618663 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81 | | | | 3 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ERCC5 CL E G H | 2073 | 3437 | OMIM:278780 | Xeroderma pigmentosum, complementation group G | | | | 83 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | | | | 5 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GABRB3 CL E G H | 2562 | 4083 | OMIM:617113 | Epileptic encephalopathy, early infantile, 43 | | | | 57 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 115 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GRIN2B CL E G H | 2904 | 4586 | OMIM:616139 | Epileptic encephalopathy, early infantile, 27 | | | | 274 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GRIN2B CL E G H | 2904 | 4586 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 274 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | GUF1 CL E G H | 60558 | 25799 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 145 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | KCNB1 CL E G H | 3745 | 6231 | OMIM:616056 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26 | | | | 65 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | KCNQ5 CL E G H | 56479 | 6299 | OMIM:617601 | Mental retardation, autosomal dominant 46 | | | | 5 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | MACF1 CL E G H | 23499 | 13664 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 2 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | | | | 1 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NDUFAF8 CL E G H | 284184 | 33551 | OMIM:618776 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34 | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NPRL2 CL E G H | 10641 | 24969 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040283 - Occasional | | | 4 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NPRL3 CL E G H | 8131 | 14124 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040283 - Occasional | | | 7 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040281 - Very frequent | | | 231 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PHACTR1 CL E G H | 221692 | 20990 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 11 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PLCB1 CL E G H | 23236 | 15917 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 244 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 126 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 427 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 427 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 66 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1935 | Early myoclonic encephalopathy | HP:0040281 - Very frequent | | | 11 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:263410 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | HP:0040283 - Occasional | | | 110 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SLC25A10 CL E G H | 1468 | 10980 | OMIM:618972 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1935 | Early myoclonic encephalopathy | HP:0040281 - Very frequent | | | 166 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040282 - Frequent | | | 27 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SPTAN1 CL E G H | 6709 | 11273 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 416 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 50 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ST3GAL3 CL E G H | 6487 | 10866 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 3 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 84 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 57 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 102 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 106 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TUBA8 CL E G H | 51807 | 12410 | ORPHA:250972 | Polymicrogyria with optic nerve hypoplasia | HP:0040283 - Occasional | | | 21 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 39 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 64 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | TUBG1 CL E G H | 7283 | 12417 | OMIM:615412 | Cortical dysplasia, complex, with other brain malformations 4 | | | | 14 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | UFSP2 CL E G H | 55325 | 25640 | OMIM:620028 | | | | | 2 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | WDR45 CL E G H | 11152 | 28912 | ORPHA:3451 | Infantile spasms syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0011097 | HP:0012469 | Infantile spasms | 1 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0011097 | HP:0032844 | Focal impaired awareness epileptic spasm | 2 | CL E G H | | | | | | | | | | |
HP:0011097 | HP:0032845 | Focal aware epileptic spasm | 2 | CL E G H | | | | | | | | | | |