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DOID DOID:0080441
Name early infantile epileptic encephalopathy 49
Definition An early infantile epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.
https://www.ncbi.nlm.nih.gov/pubmed/27866705
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OMIM:617281

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is_a early infantile epileptic encephalopathy

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