"lschriml"^^ . _:vb50937965 . _:vb50937965 . "DOID:0050944"^^ . "2015-09-18T14:13:49Z"^^ . . "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11."^^ . . _:vb50937965 . "disease_ontology"^^ . "OMIM:614487"^^ . _:vb50937965 . _:vb50937965 . . "spastic ataxia 5"^^ . .