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DOID DOID:0080433
Name early infantile epileptic encephalopathy 51
Definition An early infantile epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.
https://www.ncbi.nlm.nih.gov/pubmed/27989324
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OMIM:617339

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is_a early infantile epileptic encephalopathy

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