Term Name: developmental and epileptic encephalopathy 112
Synonyms:
Definition: A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23.
Ontology: Human Disease [DOID:0051084]   ( DOID:0051084 )

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