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Metadata
ID	DOID:0080427
Name	developmental and epileptic encephalopathy 40
Definition	A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. https://www.ncbi.nlm.nih.gov/pubmed/26486472
Xrefs	OMIM:617065
Synonyms	DEE40 [EXACT] early infantile epileptic encephalopathy 40 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease