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Metadata
ID	DOID:0070390
Name	developmental and epileptic encephalopathy 104
Definition	A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/34909687/
Xrefs	MIM:619970
Synonyms	DEE104 [EXACT] early infantile epileptic encephalopathy 104 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease