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Disease Ontology Browser
developmental and epileptic encephalopathy 9 (DOID:0060848)
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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
Alt IDs: OMIM:300088, ORDO:101039
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
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