Disease #05802 (EIEE42 (encephalopathy, epileptic, early infantile, type 42 (EIEE42)), OMIM:617106)

Official abbreviation EIEE42
Name encephalopathy, epileptic, early infantile, type 42 (EIEE42)
OMIM ID 617106
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene CACNA1A
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Individuals

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00329009 174246 - - M ? Germany - - 0 - - EIEE42 (+) Autism,(+) Autistic behavior,(+) Seizure, (+) Rolando Focus in EEG CACNA1A CACNA1A 1 1 Andreas Laner
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