_:vb50941242 . _:vb50941242 . _:vb50941242 "url:https://www.ncbi.nlm.nih.gov/pubmed/29390050"^^ . _:vb50941242 . _:vb50941242 "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23."^^ . _:vb50941242 . _:vb50941242 .