_:vb50940789 . _:vb50940789 . _:vb50940789 "url:https://www.omim.org/entry/612949?search=612949"^^ . _:vb50940789 . _:vb50940789 "url:https://pubmed.ncbi.nlm.nih.gov/24515575/"^^ . _:vb50940789 "url:https://pubmed.ncbi.nlm.nih.gov/19641205/"^^ . _:vb50940789 . _:vb50940789 . _:vb50940789 "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31."^^ . _:vb50940789 .