Preferred Label : Developmental and Epileptic Encephalopathy 9;
NCIt synonyms : DEE9; EIEE9; Epileptic Encephalopathy, Early Infantile, 9;
NCIt definition : An X-linked subtype of developmental and epileptic encephalopathy caused by mutation(s)
in the PCDH19 gene, encoding protocadherin-19.;
Origin ID : C201590;
- Has associated anatomic sites
- concept_is_in_subset
- disease_has_primary_anatomic_site