Term Name: developmental and epileptic encephalopathy 9
Synonyms: DEE9, early infantile epileptic encephalopathy 9, early infantile female-limited epilecptic encephalopathy, EFMR, EIEE9, female restricted epilepsy with mental retardation, Juberg Hellman syndrome
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.
Ontology: Human Disease [DOID:0060848]   ( DOID:0060848 )

Relationships
is a type of: developmental and epileptic encephalopathy X-linked dominant disease