Human genes for developmental and epileptic encephalopathy 9
Developmental and epileptic encephalopathy 9 [DOID:0060848]
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.
Synonyms: developmental and epileptic encephalopathy 9, DOID:0060848, DEE9, early infantile epileptic encephalopathy 9, early infantile female-limited epilecptic encephalopathy ...