Disease

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.
Synonyms
  • DEE28
  • early infantile epileptic encephalopathy 28
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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