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Metadata
ID DOID:0060848
Name developmental and epileptic encephalopathy 9
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.
https://pubmed.ncbi.nlm.nih.gov/20830798/, https://www.ncbi.nlm.nih.gov/pubmed/18469813, https://www.ncbi.nlm.nih.gov/pubmed/19752159
Xrefs

GARD:10806

OMIM:300088

ORDO:101039

Synonyms

DEE9 [EXACT]

early infantile epileptic encephalopathy 9 [EXACT]

early infantile female-limited epilecptic encephalopathy [EXACT]

EFMR [EXACT]

EIEE9 [EXACT]

female restricted epilepsy with mental retardation [EXACT]

Juberg Hellman syndrome [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a X-linked dominant disease

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