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DOID DOID:0080413
Name early infantile epileptic encephalopathy 18
Definition An early infantile epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.
https://www.ncbi.nlm.nih.gov/pubmed/23932106
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OMIM:615476

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is_a early infantile epileptic encephalopathy

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