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Human Disease
developmental and epileptic encephalopathy 8
- Term ID
- DOID:0080215
- Synonyms
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- 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 )
- is a type of
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