Brown-Vialetto-Van Laere syndrome 2 Peroxisome biogenesis disorder 4B obsolete autosomal recessive spinocerebellar ataxia 3 true ORDO:95433 disease_ontology MIM:271250 MESH:C537309 SNOMEDCT_US_2023_03_01:1204415006 GARD:9971 An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. UMLS_CUI:C1849094 DOID:0111612 SCABD SCAR3 This disease is not a distinct disease entity and should not be used. The linkage of this disease with 6p23-p21 in the original patients was found to be erroneous and they were found to have mutations in the SLC52A2 gene on chromosome 8q24, which is DOID:0080786. At the same time this error was reported, a second set of patients with a similar phenotype were found to have mutations in PEX6 gene on chromosome 6p21, which is in the original linkage region, and the authors referred to this as SCAR3, but this already exists as DOID:0081433. autosomal recessive spinocerebellar ataxia type 3 autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome