Term Name: developmental and epileptic encephalopathy 120
Synonyms:
Definition: A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25.
Ontology: Human Disease [DOID:0051089]   ( DOID:0051089 )

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