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Metadata
ID	DOID:0080455
Name	developmental and epileptic encephalopathy 52
Definition	A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/19710327
Xrefs	MIM:617350
Synonyms	DEE52 [EXACT] early infantile epileptic encephalopathy 52 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease