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| Term | developmental and epileptic encephalopathy 9 | ID (Ontology) | DOID:0060848 (Human Disease) |
| 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. | ||
| Also Known As | "DEE9" ; "early infantile epileptic encephalopathy 9" ; "early infantile female-limited epilecptic encephalopathy" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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electroclinical syndrome |__developmental and epileptic encephalopathy__ X-linked monogenic disease | |__X-linked dominant disease___________________| developmental and epileptic encephalopathy 9 |
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X-linked dominant disease developmental and epileptic encephalopathy |
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GARD:10806 MIM:300088 ORDO:101039 |
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