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Metadata
DOID DOID:0080438
Name early infantile epileptic encephalopathy 5
Definition An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
https://www.ncbi.nlm.nih.gov/pubmed/20493457
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OMIM:613477

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is_a early infantile epileptic encephalopathy

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