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Metadata
ID	DOID:0080443
Name	developmental and epileptic encephalopathy 21
Definition	A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. https://pubmed.ncbi.nlm.nih.gov/30525121/, https://www.ncbi.nlm.nih.gov/pubmed/24399846
Xrefs	MIM:615833
Synonyms	DEE21 [EXACT] early infantile epileptic encephalopathy 21 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease