_:vb50940182 . _:vb50940182 "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy."^^ . _:vb50940182 "url:https://www.omim.org/entry/618170"^^ . _:vb50940182 . _:vb50940182 . _:vb50940182 "url:https://www.ncbi.nlm.nih.gov/pubmed/30100084"^^ . _:vb50940182 .