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Metadata
DOID DOID:0080465
Name early infantile epileptic encephalopathy 30
Definition An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.
https://www.ncbi.nlm.nih.gov/pubmed/25839329
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OMIM:616341

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is_a early infantile epileptic encephalopathy

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