Term Name: developmental and epileptic encephalopathy 90
Synonyms: DEE90
Definition: A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26.
Ontology: Human Disease [DOID:0070381]   ( DOID:0070381 )

Relationships
is a type of: developmental and epileptic encephalopathy X-linked monogenic disease