Term Name: developmental and epileptic encephalopathy 78
Synonyms: DEE78, early infantile epileptic encephalopathy 78
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12.
Ontology: Human Disease [DOID:0112214]   ( DOID:0112214 )

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