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Metadata
ID	DOID:0080425
Name	developmental and epileptic encephalopathy 47
Definition	A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. https://pubmed.ncbi.nlm.nih.gov/27872899/, https://www.ncbi.nlm.nih.gov/pubmed/27164707
Xrefs	MIM:617166
Synonyms	DEE47 [EXACT] early infantile epileptic encephalopathy 47 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease