Term Name: developmental and epileptic encephalopathy 24
Synonyms: DEE24, early infantile epileptic encephalopathy 24
Definition: A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12.
Ontology: Human Disease [DOID:0080429]   ( DOID:0080429 )

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