Brown-Vialetto-Van Laere Syndrome 2 (BVVLS2)

Brown-Vialetto-Van Laere Syndrome 2, also known as riboflavin transporter deficiency, type 2, is related to riboflavin transporter deficiency and brown-vialetto-van laere syndrome, and has symptoms including ataxia, clumsiness and facial paresis. An important gene associated with Brown-Vialetto-Van Laere Syndrome 2 is SLC52A2 (Solute Carrier Family 52 Member 2), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Riboflavin and CoQ disorders. Affiliated tissues include eye and spinal cord, and related phenotypes are scoliosis and nystagmus