Human Phenotype Ontology 
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Seizure (HP:0001250)help
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Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)help
Term ID: 2373
Name: Febrile seizure (within the age range of 3 months to 6 years)
Synonym: Febrile convulsion; Febrile seizures; Fever induced seizures; Seizures, febrile, in early childhood; Seizures, generalized, associated with fever
Definition: A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
Comments:
Reference: HP:0002373
Genes and Diseases:
 
       Child Nodes:
........expandSimple febrile seizures (HP:0011171) help
........expandComplex febrile seizures (HP:0011172) help

 Sister Nodes: 
..expandDialeptic seizure (HP:0011146) help
..expandEpileptic spasm (HP:0011097) 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:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional197
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0ADGRV1 CL E G H8405917416OMIM:604352Febrile seizures, familial, 4.530
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040282 - Frequent530
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0ADORA2A CL E G H135263ORPHA:363549Acute encephalopathy with biphasic seizures and late reduced diffusion1
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsy
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessiveHP:0040283 - Occasional18
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0APP CL E G H351620ORPHA:324723ABeta amyloidosis, Arctic typeHP:0040281 - Very frequent74
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I.49
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional75
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9146
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5146
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsyHP:0040283 - Occasional146
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CHD2 CL E G H11061917OMIM:615369EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC227
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsy227
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CILK1 CL E G H2285821219OMIM:617924Epilepsy, juvenile myoclonic, susceptibility to, 10.
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsyHP:0040283 - Occasional
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsyHP:0040283 - Occasional44
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CPA6 CL E G H5709417245OMIM:614418FEBRILE SEIZURES, FAMILIAL, 11; FEB1149
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsy1
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0DEPDC5 CL E G H968118423ORPHA:98820Familial focal epilepsy with variable foci172
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0DTYMK CL E G H18413061OMIM:619847
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7.134
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0EFHC1 CL E G H11432716406ORPHA:1941Juvenile absence epilepsyHP:0040283 - Occasional153
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsyHP:0040283 - Occasional153
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040282 - Frequent18
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional134
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRA1 CL E G H25544075OMIM:615744Epileptic encephalopathy, early infantile, 19.134
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsyHP:0040283 - Occasional134
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional57
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRD CL E G H25634084OMIM:613060Epilepsy, idiopathic generalized, 10.HP:0003593 - Infantile onset10
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040282 - Frequent10
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsyHP:0040283 - Occasional10
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional139
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRG2 CL E G H25664087OMIM:607681Febrile seizures, familial, 8.139
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040282 - Frequent139
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional139
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GLS CL E G H27444331OMIM:618412Global developmental delay, progressive ataxia, and elevated glutamine.
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040283 - Occasional4
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional434
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 24.54
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0HCN1 CL E G H3489804845OMIM:618482Generalized epilepsy with febrile seizures plus, type 10.54
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040282 - Frequent54
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0HCN2 CL E G H6104846OMIM:602477Febrile seizures, familial, 2.7
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0HNRNPR CL E G H102365047OMIM:620073
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsyHP:0040283 - Occasional
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 3213
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndromeHP:0040283 - Occasional3
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsy528
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsy528
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KCNQ2 CL E G H37856296OMIM:121200Seizures, benign familial neonatal, 1HP:0040283 - Occasional528
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsy302
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsy302
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsyHP:0040283 - Occasional302
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 51HP:0040284 - Very rare2
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040283 - Occasional21
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.HP:0003593 - Infantile onset252
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 57.5
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsy52
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0NPRL2 CL E G H1064124969ORPHA:98820Familial focal epilepsy with variable foci4
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0NPRL3 CL E G H813114124ORPHA:98820Familial focal epilepsy with variable foci7
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040281 - Very frequent225
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosis
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsy94
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosis94
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 70.2
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN1A CL E G H632310585OMIM:604403Generalized epilepsy with febrile seizures plus, type 2.1053
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040282 - Frequent1053
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsy1053
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN1B CL E G H632410586OMIM:617350Epileptic encephalopathy, early infantile, 52.126
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN1B CL E G H632410586OMIM:604233Generalized epilepsy with febrile seizures plus, type 1.126
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040282 - Frequent126
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsy427
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040282 - Frequent427
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 470
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsy357
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13357
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosis357
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040282 - Frequent318
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SLC12A5 CL E G H5746813818OMIM:616685Epilepsy, idiopathic generalized, susceptibility to, 14HP:0040283 - Occasional8
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SLC13A3 CL E G H6484914430OMIM:618384Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate2
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional255
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsy255
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsy29
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional50
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0STX1B CL E G H11275518539OMIM:616172Generalized epilepsy with febrile seizures plus, type 9.9
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040282 - Frequent9
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsy108
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsy271
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0TBC1D24 CL E G H5746529203OMIM:605021Myoclonic epilepsy, familial infantile271
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040284 - Very rare16
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0THUMPD1 CL E G H5562323807OMIM:619989
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing lossHP:0040283 - Occasional
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent1
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0002373HP:0002373Febrile seizure (within the age range of 3 months to 6 years)0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0002373HP:0011171Simple febrile seizure1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0002373HP:0011172Complex febrile seizure1ADORA2A CL E G H135263ORPHA:363549Acute encephalopathy with biphasic seizures and late reduced diffusionHP:0040282 - Frequent1
HP:0002373HP:0011171Simple febrile seizure1AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional
HP:0002373HP:0011172Complex febrile seizure1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0002373HP:0011172Complex febrile seizure1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0002373HP:0011171Simple febrile seizure1CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional227
HP:0002373HP:0011172Complex febrile seizure1COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0002373HP:0011171Simple febrile seizure1CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040282 - Frequent1
HP:0002373HP:0011171Simple febrile seizure1DEPDC5 CL E G H968118423ORPHA:98820Familial focal epilepsy with variable fociHP:0040284 - Very rare172
HP:0002373HP:0011171Simple febrile seizure1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0002373HP:0011172Complex febrile seizure1FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0002373HP:0011172Complex febrile seizure1GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0002373HP:0011172Complex febrile seizure1GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0002373HP:0011171Simple febrile seizure1KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsyHP:0040284 - Very rare528
HP:0002373HP:0011171Simple febrile seizure1KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsyHP:0040283 - Occasional528
HP:0002373HP:0011171Simple febrile seizure1KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsyHP:0040284 - Very rare302
HP:0002373HP:0011171Simple febrile seizure1KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsyHP:0040283 - Occasional302
HP:0002373HP:0011171Simple febrile seizure1NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional52
HP:0002373HP:0011171Simple febrile seizure1NPRL2 CL E G H1064124969ORPHA:98820Familial focal epilepsy with variable fociHP:0040284 - Very rare4
HP:0002373HP:0011171Simple febrile seizure1NPRL3 CL E G H813114124ORPHA:98820Familial focal epilepsy with variable fociHP:0040284 - Very rare7
HP:0002373HP:0011172Complex febrile seizure1PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0002373HP:0011172Complex febrile seizure1PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0002373HP:0011172Complex febrile seizure1PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040283 - Occasional
HP:0002373HP:0011171Simple febrile seizure1PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsyHP:0040284 - Very rare94
HP:0002373HP:0011172Complex febrile seizure1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0002373HP:0011172Complex febrile seizure1PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040283 - Occasional94
HP:0002373HP:0011172Complex febrile seizure1SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0002373HP:0011172Complex febrile seizure1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0002373HP:0011171Simple febrile seizure1SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional1053
HP:0002373HP:0011172Complex febrile seizure1SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0002373HP:0011171Simple febrile seizure1SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsyHP:0040284 - Very rare427
HP:0002373HP:0011172Complex febrile seizure1SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0002373HP:0011171Simple febrile seizure1SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 470
HP:0002373HP:0011171Simple febrile seizure1SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsyHP:0040284 - Very rare357
HP:0002373HP:0011172Complex febrile seizure1SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040283 - Occasional357
HP:0002373HP:0011172Complex febrile seizure1SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0002373HP:0011171Simple febrile seizure1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0002373HP:0011172Complex febrile seizure1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0002373HP:0011171Simple febrile seizure1SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional255
HP:0002373HP:0011171Simple febrile seizure1SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional29
HP:0002373HP:0011171Simple febrile seizure1SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional108
HP:0002373HP:0011171Simple febrile seizure1TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040282 - Frequent271
HP:0002373HP:0011171Simple febrile seizure1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0002373HP:0011171Simple febrile seizure1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0002373HP:0011171Simple febrile seizure1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0002373HP:0011171Simple febrile seizure1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102
HP:0002373HP:0011171Simple febrile seizure1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0002373HP:0032656Febrile status epilepticus2SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944


Genes (124) :AASS ABHD16A ACADM ADGRV1 ADORA2A ALDH4A1 AP2M1 AP4S1 APP ARX ASXL2 ATP1A2 AUH CACNA1A CACNA1H CACNB4 CAMK2A CASK CDKL5 CEP85L CHD2 CILK1 CLCN2 CNKSR2 COG4 CPA6 CPLX1 DEPDC5 DMXL2 DNMT3A DPYD DTYMK DYRK1A EFHC1 EMC10 ERLIN2 FAR1 FBXO28 GABRA1 GABRB3 GABRD GABRG2 GALC GAMT GLS GNAO1 GNB1 GPT2 GRIA2 GRIN1 GRIN2A GRM7 HCN1 HCN2 HERC2 HNRNPR HS6ST2 JRK KCNA1 KCNA2 KCNJ6 KCNQ2 KCNQ3 KCTD7 KMT5B LMNB1 MAF MBD5 MBOAT7 MVK NEUROD2 NEXMIF NFIX NPRL2 NPRL3 PCDH19 PDE2A PEPD PIGP PIGQ PNKP POGZ PRRT2 PTH1R RNU12 RPL10 RSRC1 SATB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHB SEPSECS SETBP1 SETD5 SIK1 SLC12A5 SLC13A3 SLC25A12 SLC25A22 SLC2A1 SLC35C1 SLC44A1 SLC6A1 SPTBN1 SRPX2 STX1B SYNGAP1 TBC1D24 TBCD THUMPD1 TRIM8 TRIT1 TRNK TSEN15 TSEN2 TSEN34 TSEN54 VPS11 WAC WDR26

Diseases (103) :ORPHA:2203 OMIM:619735 ORPHA:42 OMIM:604352 ORPHA:36387 ORPHA:363549 ORPHA:79101 ORPHA:1942 OMIM:614067 ORPHA:324723 ORPHA:1934 OMIM:617190 ORPHA:569 OMIM:250950 ORPHA:64280 OMIM:607682 OMIM:613855 ORPHA:307 OMIM:617798 OMIM:618873 OMIM:615369 OMIM:617924 OMIM:301008 ORPHA:263501 OMIM:614418 ORPHA:352582 ORPHA:98820 OMIM:615879 ORPHA:1675 OMIM:619847 ORPHA:268261 ORPHA:464311 OMIM:614104 ORPHA:1941 OMIM:619264 ORPHA:280384 OMIM:619338 OMIM:619777 ORPHA:33069 OMIM:615744 OMIM:613060 OMIM:607681 ORPHA:1945 ORPHA:206443 OMIM:612736 OMIM:618412 OMIM:616973 ORPHA:477673 OMIM:618917 ORPHA:289266 OMIM:615871 OMIM:618482 OMIM:602477 OMIM:615516 OMIM:620073 OMIM:301025 OMIM:616366 OMIM:614098 ORPHA:306 ORPHA:1949 OMIM:121200 ORPHA:263516 OMIM:617788 OMIM:619179 ORPHA:1272 OMIM:156200 OMIM:617188 OMIM:260920 ORPHA:447980 ORPHA:101039 ORPHA:31709 OMIM:170100 ORPHA:468678 OMIM:600002 ORPHA:512260 OMIM:300998 ORPHA:459070 OMIM:618402 OMIM:612313 OMIM:604403 OMIM:617350 OMIM:604233 OMIM:617935 OMIM:614558 OMIM:619224 ORPHA:2524 OMIM:616078 ORPHA:404440 OMIM:616685 OMIM:618384 OMIM:612949 OMIM:266265 OMIM:618868 OMIM:619475 OMIM:616172 OMIM:605021 ORPHA:496641 OMIM:619989 OMIM:617873 ORPHA:1349 ORPHA:466934 ORPHA:466950 ORPHA:513456
 

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