OBO ID: DOID:0080215
Term Name: developmental and epileptic encephalopathy 8 Search Ontology:
Synonyms:
  • DEE8
  • early infantile epileptic encephalopathy 8
  • EIEE8
Definition: A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. (2)
References:
Ontology: Human Disease   ( DOID:0080215 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARHGEF9 Developmental and epileptic encephalopathy 8 300607
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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