Brown-Vialetto-Van Laere Syndrome 1 (BVVLS1)

Brown-Vialetto-Van Laere Syndrome 1, also known as pontobulbar palsy with deafness, is related to fazio-londe disease and riboflavin transporter deficiency, and has symptoms including dyspnea, muscular fasciculation and stridor. An important gene associated with Brown-Vialetto-Van Laere Syndrome 1 is SLC52A3 (Solute Carrier Family 52 Member 3). Affiliated tissues include eye and spinal cord, and related phenotypes are ataxia and muscle weakness