Term Name: developmental and epileptic encephalopathy 69
Synonyms: DEE69, early infantile epileptic encephalopathy 69
Definition: A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3.
Ontology: Human Disease [DOID:0112205]   ( DOID:0112205 )

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