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 developmental and epileptic encephalopathy

is_a autosomal dominant disease

Add an item to the term tracker