Term Name: | developmental and epileptic encephalopathy 9 |
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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 ) |