Brown-Vialetto-van Laere syndrome 1

Definition

Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.

Also known as Brown-Vialetto-Van Laere syndrome 1, Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3, rfvt2-related riboflavin transporter deficiency, Riboflavin transporter deficiency 2, RTD2, SLC52A3 Brown-Vialetto-van Laere syndrome — per MONDO

Also identified as

• DOID 0080785 per MONDO
• NCIT C133724 per MONDO
• OMIM 211530 per MONDO
• Orphanet 572543 per MONDO
• UMLS C0796274 per MONDO

Affected Organs