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Metadata
ID	DOID:0080426
Name	developmental and 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. https://pubmed.ncbi.nlm.nih.gov/28422131/, https://www.ncbi.nlm.nih.gov/pubmed/26539891
Xrefs	MIM:617976
Synonyms	DEE63 [EXACT] early infantile epileptic encephalopathy 63 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease