Human Phenotype Ontology 
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Abnormal nervous system physiology (HP:0012638)help
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Seizure (HP:0001250)help
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Epileptic spasm (HP:0011097)help
Term ID: 11097
Name: Epileptic spasm
Synonym: Epileptic spasms; Salaam convulsion; Salaam convulsions; Salaam seizure; Salaam seizures; West syndrome
Definition: A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages
Comments:
Reference: HP:0011097
Genes and Diseases:
 
       Child Nodes:
........expandInfantile spasms (HP:0012469) help

 Sister Nodes: 
..expandDialeptic seizure (HP:0011146) help
..expandFebrile seizure (within the age range of 3 months to 6 years) (HP:0002373) help
..expandFocal-onset seizure (HP:0007359) help
..expandGeneralized-onset seizure (HP:0002197) help
..expandMultifocal seizures (HP:0031165) help
..expandStatus epilepticus (HP:0002133) help
..expandSymptomatic seizures (HP:0011145) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011097HP:0011097Epileptic spasm0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0011097HP:0011097Epileptic spasm0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0011097HP:0011097Epileptic spasm0AKT3 CL E G H10000393ORPHA:99802HemimegalencephalyHP:0040283 - Occasional19
HP:0011097HP:0011097Epileptic spasm0ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsyHP:0040283 - Occasional227
HP:0011097HP:0011097Epileptic spasm0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDG96
HP:0011097HP:0011097Epileptic spasm0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0011097HP:0011097Epileptic spasm0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0011097HP:0011097Epileptic spasm0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDG46
HP:0011097HP:0011097Epileptic spasm0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0011097HP:0011097Epileptic spasm0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0011097HP:0011097Epileptic spasm0ARFGEF1 CL E G H1056515772OMIM:619964
HP:0011097HP:0011097Epileptic spasm0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0011097HP:0011097Epileptic spasm0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0011097HP:0011097Epileptic spasm0ARX CL E G H17030218060ORPHA:3451Infantile spasms syndrome166
HP:0011097HP:0011097Epileptic spasm0ARX CL E G H17030218060OMIM:309510Partington syndrome166
HP:0011097HP:0011097Epileptic spasm0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0011097HP:0011097Epileptic spasm0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0011097HP:0011097Epileptic spasm0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0011097HP:0011097Epileptic spasm0ATP2B1 CL E G H490814OMIM:619910
HP:0011097HP:0011097Epileptic spasm0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0011097HP:0011097Epileptic spasm0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0011097HP:0011097Epileptic spasm0ATP7A CL E G H538869OMIM:309400Menkes disease192
HP:0011097HP:0011097Epileptic spasm0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0011097HP:0011097Epileptic spasm0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0011097HP:0011097Epileptic spasm0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011097HP:0011097Epileptic spasm0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011097HP:0011097Epileptic spasm0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011097HP:0011097Epileptic spasm0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0011097HP:0011097Epileptic spasm0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0011097HP:0011097Epileptic spasm0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0011097HP:0011097Epileptic spasm0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0011097HP:0011097Epileptic spasm0CDKL5 CL E G H679211411ORPHA:3451Infantile spasms syndrome405
HP:0011097HP:0011097Epileptic spasm0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0011097HP:0011097Epileptic spasm0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0011097HP:0011097Epileptic spasm0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0011097HP:0011097Epileptic spasm0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60
HP:0011097HP:0011097Epileptic spasm0CNPY3 CL E G H1069511968ORPHA:3451Infantile spasms syndrome
HP:0011097HP:0011097Epileptic spasm0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0011097HP:0011097Epileptic spasm0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0011097HP:0011097Epileptic spasm0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1102
HP:0011097HP:0011097Epileptic spasm0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutation145
HP:0011097HP:0011097Epileptic spasm0DEPDC5 CL E G H968118423ORPHA:98820Familial focal epilepsy with variable foci172
HP:0011097HP:0011097Epileptic spasm0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0011097HP:0011097Epileptic spasm0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0011097HP:0011097Epileptic spasm0DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0011097HP:0011097Epileptic spasm0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0011097HP:0011097Epileptic spasm0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0011097HP:0011097Epileptic spasm0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0011097HP:0011097Epileptic spasm0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0011097HP:0011097Epileptic spasm0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 3360
HP:0011097HP:0011097Epileptic spasm0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0011097HP:0011097Epileptic spasm0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0011097HP:0011097Epileptic spasm0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G83
HP:0011097HP:0011097Epileptic spasm0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0011097HP:0011097Epileptic spasm0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011097HP:0011097Epileptic spasm0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0011097HP:0011097Epileptic spasm0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0011097HP:0011097Epileptic spasm0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 4357
HP:0011097HP:0011097Epileptic spasm0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0011097HP:0011097Epileptic spasm0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiency115
HP:0011097HP:0011097Epileptic spasm0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0011097HP:0011097Epileptic spasm0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0011097HP:0011097Epileptic spasm0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0011097HP:0011097Epileptic spasm0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0011097HP:0011097Epileptic spasm0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0011097HP:0011097Epileptic spasm0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0011097HP:0011097Epileptic spasm0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0011097HP:0011097Epileptic spasm0GRIN2B CL E G H29044586ORPHA:3451Infantile spasms syndrome274
HP:0011097HP:0011097Epileptic spasm0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0011097HP:0011097Epileptic spasm0GUF1 CL E G H6055825799ORPHA:3451Infantile spasms syndrome2
HP:0011097HP:0011097Epileptic spasm0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0011097HP:0011097Epileptic spasm0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0011097HP:0011097Epileptic spasm0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0011097HP:0011097Epileptic spasm0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0011097HP:0011097Epileptic spasm0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0011097HP:0011097Epileptic spasm0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0011097HP:0011097Epileptic spasm0KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0011097HP:0011097Epileptic spasm0KCNC2 CL E G H37476234OMIM:619913
HP:0011097HP:0011097Epileptic spasm0KCNQ2 CL E G H37856296ORPHA:439218KCNQ2-related epileptic encephalopathyHP:0040282 - Frequent528
HP:0011097HP:0011097Epileptic spasm0KCNQ5 CL E G H564796299OMIM:617601Mental retardation, autosomal dominant 465
HP:0011097HP:0011097Epileptic spasm0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011097HP:0011097Epileptic spasm0KIF1A CL E G H547888ORPHA:2836PEHO syndrome276
HP:0011097HP:0011097Epileptic spasm0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency8
HP:0011097HP:0011097Epileptic spasm0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0011097HP:0011097Epileptic spasm0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0011097HP:0011097Epileptic spasm0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0011097HP:0011097Epileptic spasm0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0011097HP:0011097Epileptic spasm0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0011097HP:0011097Epileptic spasm0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 217
HP:0011097HP:0011097Epileptic spasm0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional17
HP:0011097HP:0011097Epileptic spasm0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0011097HP:0011097Epileptic spasm0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC101
HP:0011097HP:0011097Epileptic spasm0MTOR CL E G H24753942ORPHA:99802HemimegalencephalyHP:0040283 - Occasional68
HP:0011097HP:0011097Epileptic spasm0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0011097HP:0011097Epileptic spasm0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0011097HP:0011097Epileptic spasm0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0011097HP:0011097Epileptic spasm0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0011097HP:0011097Epileptic spasm0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0011097HP:0011097Epileptic spasm0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0011097HP:0011097Epileptic spasm0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0011097HP:0011097Epileptic spasm0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0011097HP:0011097Epileptic spasm0NPRL2 CL E G H1064124969ORPHA:98820Familial focal epilepsy with variable foci4
HP:0011097HP:0011097Epileptic spasm0NPRL3 CL E G H813114124ORPHA:98820Familial focal epilepsy with variable foci7
HP:0011097HP:0011097Epileptic spasm0NSF CL E G H49058016OMIM:619340DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0011097HP:0011097Epileptic spasm0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndrome1
HP:0011097HP:0011097Epileptic spasm0NTRK2 CL E G H49158032ORPHA:3451Infantile spasms syndrome8
HP:0011097HP:0011097Epileptic spasm0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0011097HP:0011097Epileptic spasm0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutation231
HP:0011097HP:0011097Epileptic spasm0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency88
HP:0011097HP:0011097Epileptic spasm0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0011097HP:0011097Epileptic spasm0PHACTR1 CL E G H22169220990ORPHA:3451Infantile spasms syndrome1
HP:0011097HP:0011097Epileptic spasm0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040282 - Frequent37
HP:0011097HP:0011097Epileptic spasm0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0011097HP:0011097Epileptic spasm0PIGA CL E G H52778957ORPHA:3451Infantile spasms syndrome46
HP:0011097HP:0011097Epileptic spasm0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0011097HP:0011097Epileptic spasm0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0011097HP:0011097Epileptic spasm0PIK3CA CL E G H52908975ORPHA:99802HemimegalencephalyHP:0040283 - Occasional162
HP:0011097HP:0011097Epileptic spasm0PLCB1 CL E G H2323615917OMIM:613722Epileptic encephalopathy, early infantile, 12119
HP:0011097HP:0011097Epileptic spasm0PLCB1 CL E G H2323615917ORPHA:3451Infantile spasms syndrome119
HP:0011097HP:0011097Epileptic spasm0PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsyHP:0040283 - Occasional6
HP:0011097HP:0011097Epileptic spasm0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0011097HP:0011097Epileptic spasm0PPFIBP1 CL E G H84969249OMIM:620024
HP:0011097HP:0011097Epileptic spasm0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011097HP:0011097Epileptic spasm0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 12
HP:0011097HP:0011097Epileptic spasm0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0011097HP:0011097Epileptic spasm0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0011097HP:0011097Epileptic spasm0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0011097HP:0011097Epileptic spasm0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040283 - Occasional53
HP:0011097HP:0011097Epileptic spasm0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0011097HP:0011097Epileptic spasm0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathy
HP:0011097HP:0011097Epileptic spasm0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0011097HP:0011097Epileptic spasm0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0011097HP:0011097Epileptic spasm0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0011097HP:0011097Epileptic spasm0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0011097HP:0011097Epileptic spasm0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0011097HP:0011097Epileptic spasm0SCN2A CL E G H632610588ORPHA:3451Infantile spasms syndrome427
HP:0011097HP:0011097Epileptic spasm0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13.357
HP:0011097HP:0011097Epileptic spasm0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0011097HP:0011097Epileptic spasm0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0011097HP:0011097Epileptic spasm0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0011097HP:0011097Epileptic spasm0SIK1 CL E G H15009411142ORPHA:1935Early myoclonic encephalopathy11
HP:0011097HP:0011097Epileptic spasm0SIK1 CL E G H15009411142ORPHA:3451Infantile spasms syndrome11
HP:0011097HP:0011097Epileptic spasm0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome110
HP:0011097HP:0011097Epileptic spasm0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 413
HP:0011097HP:0011097Epileptic spasm0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0011097HP:0011097Epileptic spasm0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0011097HP:0011097Epileptic spasm0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0011097HP:0011097Epileptic spasm0SLC25A22 CL E G H7975119954ORPHA:1935Early myoclonic encephalopathy166
HP:0011097HP:0011097Epileptic spasm0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0011097HP:0011097Epileptic spasm0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDG27
HP:0011097HP:0011097Epileptic spasm0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040282 - Frequent146
HP:0011097HP:0011097Epileptic spasm0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndrome135
HP:0011097HP:0011097Epileptic spasm0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0011097HP:0011097Epileptic spasm0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0011097HP:0011097Epileptic spasm0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011097HP:0011097Epileptic spasm0SPTAN1 CL E G H670911273ORPHA:3451Infantile spasms syndrome416
HP:0011097HP:0011097Epileptic spasm0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011097HP:0011097Epileptic spasm0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0011097HP:0011097Epileptic spasm0ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 15.41
HP:0011097HP:0011097Epileptic spasm0ST3GAL3 CL E G H648710866ORPHA:3451Infantile spasms syndrome41
HP:0011097HP:0011097Epileptic spasm0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome6
HP:0011097HP:0011097Epileptic spasm0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0011097HP:0011097Epileptic spasm0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome12
HP:0011097HP:0011097Epileptic spasm0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0011097HP:0011097Epileptic spasm0TBL1XR1 CL E G H7971829529OMIM:616944Mental retardation, autosomal dominant 4122
HP:0011097HP:0011097Epileptic spasm0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0011097HP:0011097Epileptic spasm0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040283 - Occasional2
HP:0011097HP:0011097Epileptic spasm0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0011097HP:0011097Epileptic spasm0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0011097HP:0011097Epileptic spasm0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0011097HP:0011097Epileptic spasm0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0011097HP:0011097Epileptic spasm0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0011097HP:0011097Epileptic spasm0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0011097HP:0011097Epileptic spasm0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0011097HP:0011097Epileptic spasm0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0011097HP:0011097Epileptic spasm0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0011097HP:0011097Epileptic spasm0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0011097HP:0011097Epileptic spasm0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0011097HP:0011097Epileptic spasm0TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0011097HP:0011097Epileptic spasm0TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0011097HP:0011097Epileptic spasm0TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasia21
HP:0011097HP:0011097Epileptic spasm0TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0011097HP:0011097Epileptic spasm0TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0011097HP:0011097Epileptic spasm0TUBG1 CL E G H728312417OMIM:615412Cortical dysplasia, complex, with other brain malformations 414
HP:0011097HP:0011097Epileptic spasm0UFSP2 CL E G H5532525640OMIM:6200282
HP:0011097HP:0011097Epileptic spasm0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011097HP:0011097Epileptic spasm0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0011097HP:0011097Epileptic spasm0WDR45 CL E G H1115228912ORPHA:3451Infantile spasms syndrome51
HP:0011097HP:0011097Epileptic spasm0ZNF526 CL E G H11611529415OMIM:61987724
HP:0011097HP:0011097Epileptic spasm0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndrome1
HP:0011097HP:0032843Focal-onset epileptic spasm1 CL E G H
HP:0011097HP:0032842Generalized-onset epileptic spasm1 CL E G H
HP:0011097HP:0012469Infantile spasms1ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defectsHP:0040284 - Very rare2
HP:0011097HP:0012469Infantile spasms1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0011097HP:0012469Infantile spasms1ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040280 - Obligate96
HP:0011097HP:0012469Infantile spasms1ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0011097HP:0012469Infantile spasms1ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0011097HP:0012469Infantile spasms1ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040283 - Occasional46
HP:0011097HP:0012469Infantile spasms1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0011097HP:0012469Infantile spasms1APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0011097HP:0012469Infantile spasms1ARFGEF1 CL E G H1056515772OMIM:619964
HP:0011097HP:0012469Infantile spasms1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0011097HP:0012469Infantile spasms1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0011097HP:0012469Infantile spasms1ARX CL E G H17030218060ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent166
HP:0011097HP:0012469Infantile spasms1ARX CL E G H17030218060OMIM:309510Partington syndrome166
HP:0011097HP:0012469Infantile spasms1ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040284 - Very rare78
HP:0011097HP:0012469Infantile spasms1ATP2B1 CL E G H490814OMIM:619910
HP:0011097HP:0012469Infantile spasms1ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0011097HP:0012469Infantile spasms1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0011097HP:0012469Infantile spasms1CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011097HP:0012469Infantile spasms1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011097HP:0012469Infantile spasms1CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011097HP:0012469Infantile spasms1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0011097HP:0012469Infantile spasms1CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0011097HP:0012469Infantile spasms1CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0011097HP:0012469Infantile spasms1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0011097HP:0012469Infantile spasms1CDKL5 CL E G H679211411ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent405
HP:0011097HP:0012469Infantile spasms1CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0011097HP:0012469Infantile spasms1CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0011097HP:0012469Infantile spasms1CNPY3 CL E G H1069511968ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent
HP:0011097HP:0012469Infantile spasms1CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0011097HP:0012469Infantile spasms1D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1102
HP:0011097HP:0012469Infantile spasms1DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutationHP:0040282 - Frequent145
HP:0011097HP:0012469Infantile spasms1DEPDC5 CL E G H968118423ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional172
HP:0011097HP:0012469Infantile spasms1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0011097HP:0012469Infantile spasms1DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0011097HP:0012469Infantile spasms1DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0011097HP:0012469Infantile spasms1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0011097HP:0012469Infantile spasms1DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0011097HP:0012469Infantile spasms1DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0011097HP:0012469Infantile spasms1EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0011097HP:0012469Infantile spasms1ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G83
HP:0011097HP:0012469Infantile spasms1FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0011097HP:0012469Infantile spasms1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011097HP:0012469Infantile spasms1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional5
HP:0011097HP:0012469Infantile spasms1GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0011097HP:0012469Infantile spasms1GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 4357
HP:0011097HP:0012469Infantile spasms1GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0011097HP:0012469Infantile spasms1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0011097HP:0012469Infantile spasms1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0011097HP:0012469Infantile spasms1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0011097HP:0012469Infantile spasms1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0011097HP:0012469Infantile spasms1GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0011097HP:0012469Infantile spasms1GRIN2B CL E G H29044586ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent274
HP:0011097HP:0012469Infantile spasms1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0011097HP:0012469Infantile spasms1GUF1 CL E G H6055825799ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent2
HP:0011097HP:0012469Infantile spasms1HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0011097HP:0012469Infantile spasms1HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040282 - Frequent32
HP:0011097HP:0012469Infantile spasms1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0011097HP:0012469Infantile spasms1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0011097HP:0012469Infantile spasms1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0011097HP:0012469Infantile spasms1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0011097HP:0012469Infantile spasms1KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0011097HP:0012469Infantile spasms1KCNQ5 CL E G H564796299OMIM:617601Mental retardation, autosomal dominant 465
HP:0011097HP:0012469Infantile spasms1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011097HP:0012469Infantile spasms1KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0011097HP:0012469Infantile spasms1LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0011097HP:0012469Infantile spasms1MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0011097HP:0012469Infantile spasms1MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0011097HP:0012469Infantile spasms1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0011097HP:0012469Infantile spasms1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional950
HP:0011097HP:0012469Infantile spasms1MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0011097HP:0012469Infantile spasms1MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0011097HP:0012469Infantile spasms1NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0011097HP:0012469Infantile spasms1NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0011097HP:0012469Infantile spasms1ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0011097HP:0012469Infantile spasms1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0011097HP:0012469Infantile spasms1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0011097HP:0012469Infantile spasms1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0011097HP:0012469Infantile spasms1NPRL2 CL E G H1064124969ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional4
HP:0011097HP:0012469Infantile spasms1NPRL3 CL E G H813114124ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional7
HP:0011097HP:0012469Infantile spasms1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional1
HP:0011097HP:0012469Infantile spasms1NTRK2 CL E G H49158032ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent8
HP:0011097HP:0012469Infantile spasms1OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0011097HP:0012469Infantile spasms1PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040281 - Very frequent231
HP:0011097HP:0012469Infantile spasms1PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0011097HP:0012469Infantile spasms1PHACTR1 CL E G H22169220990ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent1
HP:0011097HP:0012469Infantile spasms1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0011097HP:0012469Infantile spasms1PIGA CL E G H52778957ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent46
HP:0011097HP:0012469Infantile spasms1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0011097HP:0012469Infantile spasms1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0011097HP:0012469Infantile spasms1PLCB1 CL E G H2323615917ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent119
HP:0011097HP:0012469Infantile spasms1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0011097HP:0012469Infantile spasms1PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011097HP:0012469Infantile spasms1PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0011097HP:0012469Infantile spasms1RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0011097HP:0012469Infantile spasms1RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0011097HP:0012469Infantile spasms1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0011097HP:0012469Infantile spasms1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0011097HP:0012469Infantile spasms1SCN2A CL E G H632610588ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent427
HP:0011097HP:0012469Infantile spasms1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent66
HP:0011097HP:0012469Infantile spasms1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0011097HP:0012469Infantile spasms1SIK1 CL E G H15009411142ORPHA:1935Early myoclonic encephalopathyHP:0040281 - Very frequent11
HP:0011097HP:0012469Infantile spasms1SIK1 CL E G H15009411142ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent11
HP:0011097HP:0012469Infantile spasms1SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040283 - Occasional110
HP:0011097HP:0012469Infantile spasms1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0011097HP:0012469Infantile spasms1SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0011097HP:0012469Infantile spasms1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0011097HP:0012469Infantile spasms1SLC25A22 CL E G H7975119954ORPHA:1935Early myoclonic encephalopathyHP:0040281 - Very frequent166
HP:0011097HP:0012469Infantile spasms1SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040282 - Frequent27
HP:0011097HP:0012469Infantile spasms1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional135
HP:0011097HP:0012469Infantile spasms1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0011097HP:0012469Infantile spasms1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040283 - Occasional19
HP:0011097HP:0012469Infantile spasms1SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011097HP:0012469Infantile spasms1SPTAN1 CL E G H670911273ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent416
HP:0011097HP:0012469Infantile spasms1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011097HP:0012469Infantile spasms1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0011097HP:0012469Infantile spasms1ST3GAL3 CL E G H648710866ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent41
HP:0011097HP:0012469Infantile spasms1STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040281 - Very frequent6
HP:0011097HP:0012469Infantile spasms1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0011097HP:0012469Infantile spasms1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0011097HP:0012469Infantile spasms1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0011097HP:0012469Infantile spasms1TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0011097HP:0012469Infantile spasms1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0011097HP:0012469Infantile spasms1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0011097HP:0012469Infantile spasms1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0011097HP:0012469Infantile spasms1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0011097HP:0012469Infantile spasms1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent3
HP:0011097HP:0012469Infantile spasms1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent84
HP:0011097HP:0012469Infantile spasms1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent57
HP:0011097HP:0012469Infantile spasms1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent102
HP:0011097HP:0012469Infantile spasms1TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0011097HP:0012469Infantile spasms1TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0011097HP:0012469Infantile spasms1TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasiaHP:0040283 - Occasional21
HP:0011097HP:0012469Infantile spasms1TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0011097HP:0012469Infantile spasms1TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0011097HP:0012469Infantile spasms1TUBG1 CL E G H728312417OMIM:615412Cortical dysplasia, complex, with other brain malformations 414
HP:0011097HP:0012469Infantile spasms1UFSP2 CL E G H5532525640OMIM:6200282
HP:0011097HP:0012469Infantile spasms1VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0011097HP:0012469Infantile spasms1WDR45 CL E G H1115228912ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent51
HP:0011097HP:0012469Infantile spasms1ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040281 - Very frequent1
HP:0011097HP:0032844Focal impaired awareness epileptic spasm2 CL E G H
HP:0011097HP:0032845Focal aware epileptic spasm2 CL E G H


Genes (167) :ACTL6B ADGRG1 AKT3 ALDH7A1 ALG13 ALG14 ALG2 APC2 ARFGEF1 ARX ASAH1 ASPA ATP1A3 ATP2B1 ATP6 ATP6V0A1 ATP7A BTD CASK CDC40 CDH2 CDK19 CDKL5 CELF2 CEP85L CLCN4 CNPY3 COX4I1 CUL3 D2HGDH DCX DEPDC5 DHX16 DHX37 DMXL2 DOCK7 DOLK DPAGT1 EEF1A2 EHMT1 ERCC5 FBLN1 FBXO28 GABBR2 GABRB3 GAD1 GCDH GNAO1 GNB1 GRIK2 GRIN1 GRIN2A GRIN2B GRM7 GUF1 HDAC4 HIBCH HK1 IFNG KCNA1 KCNB1 KCNC2 KCNQ2 KCNQ5 KDM4B KIF1A LONP1 MACF1 MAPK1 MDH2 MECP2 MFF MGAT2 MMACHC MTOR NACC1 NAXD NCDN ND1 ND2 ND3 ND4 ND5 ND6 NDUFAF8 NEUROD2 NEXMIF NGLY1 NPRL2 NPRL3 NSF NTNG1 NTRK2 OGDHL PAFAH1B1 PDHA1 PHACTR1 PHGDH PI4KA PIGA PIGP PIGQ PIK3CA PLCB1 PLPBP PNKP PPFIBP1 PPIL1 PPP3CA PRUNE1 PSAT1 PTPN23 PURA RALGAPA1 RNF13 RNU4ATAC RUSC2 SCN1A SCN1B SCN2A SCN8A SEPSECS SETBP1 SIK1 SLC19A3 SLC1A2 SLC1A4 SLC25A10 SLC25A22 SLC35A2 SMARCA2 SMC1A SPATA5 SPATA5L1 SPTAN1 SPTBN1 SRPX2 ST3GAL3 STRADA STXBP1 TANGO2 TBCD TBL1XR1 TIMM50 TRAPPC12 TRIM8 TRNK TRNL1 TRNV TRNW TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBA8 TUBB2B TUBB3 TUBG1 UFSP2 UGDH VPS53 WDR45 ZNF526 ZNHIT3

Diseases (137) :OMIM:618470 ORPHA:98889 ORPHA:99802 ORPHA:3006 ORPHA:324422 OMIM:300884 OMIM:619031 ORPHA:79326 OMIM:607906 OMIM:618677 OMIM:619964 OMIM:308350 ORPHA:1934 ORPHA:3451 OMIM:309510 ORPHA:333 OMIM:271900 OMIM:619606 OMIM:619910 ORPHA:255210 OMIM:619971 OMIM:619970 OMIM:309400 ORPHA:79241 OMIM:619302 OMIM:618929 OMIM:618916 ORPHA:3095 ORPHA:505652 OMIM:300672 OMIM:619561 ORPHA:572013 ORPHA:485350 OMIM:617929 OMIM:619060 OMIM:619239 OMIM:600721 ORPHA:2148 ORPHA:98820 OMIM:618733 OMIM:618731 OMIM:618663 ORPHA:411986 ORPHA:91131 ORPHA:86309 OMIM:616409 OMIM:616393 ORPHA:96147 OMIM:278780 ORPHA:404451 OMIM:619777 OMIM:617904 OMIM:617113 OMIM:619124 ORPHA:25 OMIM:616973 OMIM:619580 ORPHA:208447 ORPHA:289266 OMIM:616139 OMIM:619797 ORPHA:88639 OMIM:618547 ORPHA:805 OMIM:613254 OMIM:616056 OMIM:619913 ORPHA:439218 OMIM:617601 OMIM:619320 ORPHA:2836 ORPHA:79243 OMIM:618325 OMIM:619087 OMIM:617339 OMIM:617086 ORPHA:485421 ORPHA:79329 ORPHA:79282 OMIM:617393 OMIM:618321 OMIM:619373 OMIM:618776 OMIM:618374 OMIM:300912 ORPHA:404454 OMIM:619340 OMIM:619701 ORPHA:95232 OMIM:618298 ORPHA:79351 OMIM:613722 OMIM:620024 OMIM:619301 OMIM:617711 ORPHA:544469 ORPHA:284417 OMIM:618890 ORPHA:314655 OMIM:618797 ORPHA:544503 ORPHA:2636 OMIM:617773 OMIM:619317 OMIM:614558 ORPHA:2524 ORPHA:798 ORPHA:1935 ORPHA:263410 OMIM:617105 ORPHA:447997 OMIM:618972 OMIM:300896 ORPHA:356961 ORPHA:3051 OMIM:301044 ORPHA:457351 OMIM:619616 OMIM:619475 OMIM:615006 ORPHA:500533 OMIM:612164 ORPHA:480864 OMIM:617193 OMIM:616944 OMIM:617698 ORPHA:500144 OMIM:619428 OMIM:191100 ORPHA:171680 ORPHA:467166 ORPHA:250972 OMIM:615412 OMIM:620028 OMIM:618792 OMIM:615851 OMIM:619877
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.