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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
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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