has material basis in germline mutation in SLC52A3 riboflavin transporter deficiency Brown-Vialetto-van Laere syndrome 1 https://github.com/monarch-initiative/mondo/issues/10435 https://www.malacards.org/card/brown_vialetto_van_laere_syndrome_1 Any riboflavin transporter deficiency in which the cause of the disease is a mutation in the SLC52A3 gene. It is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis. The onset of the disease is usually in the second decade, but earlier and later onset have been reported. RFVT3-related riboflavin transporter deficiency NCIT:C133724 UMLS:C0796274 GARD:0018010 OMIM:211530 RTD3 Brown-Vialetto-Van Laere syndrome 1 bulbar palsy, progressive, with sensorineural deafness DOID:0080785 Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3 SLC52A3 Brown-Vialetto-van Laere syndrome riboflavin transporter deficiency 3 Orphanet:572550 BVVLS1 MEDGEN:163239 MONDO:0024537 pontobulbar palsy with deafness Brown-Vialetto-van Laere syndrome 1