Term Name: | developmental and epileptic encephalopathy 8 |
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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. |
Ontology: | Human Disease [DOID:0080215] ( DOID:0080215 ) |