Term Name: developmental and epileptic encephalopathy 3
Synonyms: early infantile epileptic encephalopathy 3
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.
Ontology: Human Disease [DOID:0080440]   ( DOID:0080440 )

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