Term Name: developmental and epileptic encephalopathy 101
Synonyms: DEE101, early infantile 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.
Ontology: Human Disease [DOID:0070387]   ( DOID:0070387 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy