Disease #03678

Official abbreviation EIEE-13
Name encephalopathy, epileptic, early infantile, type 13 (EIEE-13)
OMIM ID 614558
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SCN8A
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Individuals

1 entry on 1 page. Showing entry 1.
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00107906 - PubMed: Veeramah 2012 - F ? United States - - 0 - - EIEE-13 early-onset seizures, features of autism, intellectual disability, ataxia, sudden unexplained death in epilepsy at 15y of age; Infantile epileptic encephalopathy SCN8A SCN8A 1 1 Johan den Dunnen
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