Term Name: developmental and epileptic encephalopathy 43
Synonyms: DEE43, early infantile epileptic encephalopathy 43
Definition: A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.
Ontology: Human Disease [DOID:0080447]   ( DOID:0080447 )

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