Term Name: developmental and epileptic encephalopathy 93
Synonyms: DEE93, IECEE3, infantile or early childhood epileptic encephalopathy 3
Definition: A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31.
Ontology: Human Disease [DOID:0112275]   ( DOID:0112275 )

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