DO_rare_slim has material basis in has symptom Brown-Vialetto-Van Laere syndrome autosomal recessive disease Brown-Vialetto-Van Laere syndrome 2 SNOMEDCT_US_2025_09_01:1204415006 disease_ontology ORDO:95433 MIM:614707 MESH:C537309 MIM:614707 DOID:0080786 UMLS_CUI:C1849094 ORDO:95433 UMLS_CUI:C1849094 DOID:0111612 A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. GARD:9971 GARD:9971 SCABD SCABD2 SCAR3 autosomal recessive spinocerebellar ataxia 3 autosomal recessive spinocerebellar ataxia type 3 autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome spinocerebellar ataxia with blindness and deafness 2 autosomal recessive inheritance muscle weakness