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Human Disease

developmental and epileptic encephalopathy 28

Term ID
DOID:0080452
Synonyms
  • DEE28
  • early infantile 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. (2)
References
Ontology
Human Disease   ( DOID:0080452 )
Relationships
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Genes Involved
Zebrafish Models