has material basis in germline mutation in SLC52A2 riboflavin transporter deficiency Brown-Vialetto-van Laere syndrome 2 https://github.com/monarch-initiative/mondo/issues/10435 https://rarediseases.info.nih.gov/diseases/12861/brown-vialetto-van-laere-syndrome-2 https://www.malacards.org/card/brown_vialetto_van_laere_syndrome_2 riboflavin transporter deficiency, type 2 Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 riboflavin transporter deficiency 2 Orphanet:572543 spinocerebellar ataxia with blindness and deafness 2 Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2 RFVT2-related riboflavin transporter deficiency RTD2 BVVLS2 SCABD2 OMIM:614707 MEDGEN:766452 Brown-Vialetto-Van Laere syndrome type 2 Any riboflavin transporter deficiency in which the cause of the disease is a mutation in the SLC52A2 gene. It 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. HGNC:30224 DOID:0080786 GARD:0012861 NCIT:C183529 UMLS:C3553538 SLC52A2 Brown-Vialetto-van Laere syndrome