Visualize Submit Comment

Metadata
ID	DOID:0070377
Name	developmental and epileptic encephalopathy 96
Definition	A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/31675180/
Xrefs	MIM:619340
Synonyms	DEE96 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a developmental and epileptic encephalopathy
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance