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Metadata
ID DOID:0070381
Name developmental and epileptic encephalopathy 90
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.
https://pubmed.ncbi.nlm.nih.gov/33245860/
Xrefs

MIM:301058

Synonyms

DEE90 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a X-linked monogenic disease

Subclass Logical Relationships

has material basis in some X-linked inheritance

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