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Metadata
ID	DOID:0080472
Name	developmental and epileptic encephalopathy 91
Definition	A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/28942967
Xrefs	MIM:617711
Synonyms	infantile or early childhood epileptic encephalopathy 1 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease