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ID DOID:0080418
Name early infantile epileptic encephalopathy 54
Definition An early infantile epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.
https://www.ncbi.nlm.nih.gov/pubmed/27652284
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OMIM:617391

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is_a early infantile epileptic encephalopathy

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