developmental and epileptic encephalopathy 9 (DOID:0060848)
Alliance: disease page
Synonyms: DEE9; early infantile epileptic encephalopathy 9; early infantile female-limited epilecptic encephalopathy; EFMR; EIEE9; female restricted epilepsy with mental retardation; Juberg Hellman syndrome
Alt IDs: OMIM:300088, ORDO:101039
Definition: A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.