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Metadata
ID	DOID:0080413
Name	developmental and epileptic encephalopathy 18
Definition	A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/23932106
Xrefs	GARD:13676 OMIM:615476
Subsets	DO_rare_slim
Synonyms	DEE18 [EXACT] early infantile epileptic encephalopathy 18 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease