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Metadata
ID	DOID:0080452
Name	developmental and epileptic encephalopathy 28
Definition	A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. https://pubmed.ncbi.nlm.nih.gov/25411445/, https://www.ncbi.nlm.nih.gov/pubmed/24456803
Xrefs	MIM:616211
Synonyms	DEE28 [EXACT] early infantile epileptic encephalopathy 28 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease