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Metadata
DOID DOID:0080471
Name infantile or early childhood epileptic encephalopathy 2
Definition An electroclinical syndrome characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.
https://www.ncbi.nlm.nih.gov/pubmed/25124326, https://www.ncbi.nlm.nih.gov/pubmed/29100083
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OMIM:617829

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is_a electroclinical syndrome

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