Term Name: developmental and epileptic encephalopathy 63
Synonyms: DEE63, early infantile epileptic encephalopathy 63
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.
Ontology: Human Disease [DOID:0080426]   ( DOID:0080426 )

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