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ID DOID:0080449
Name early infantile epileptic encephalopathy 16
Definition An early infantile epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
https://www.ncbi.nlm.nih.gov/pubmed/21087195, https://www.ncbi.nlm.nih.gov/pubmed/23526554
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OMIM:615338

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is_a early infantile epileptic encephalopathy

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