Visualize Submit Comment
Metadata
ID DOID:0070387
Name developmental and epileptic encephalopathy 101
Definition A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.
https://pubmed.ncbi.nlm.nih.gov/34611970/
Xrefs

MIM:619814

Synonyms

DEE101 [EXACT]

early infantile epileptic encephalopathy 101 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

Add an item to the term tracker