Term Name: developmental and epileptic encephalopathy 114
Synonyms:
Definition: A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11.
Ontology: Human Disease [DOID:0051086]   ( DOID:0051086 )

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