Brown-Vialetto-van Laere syndrome 2

Definition

Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.

Also known as Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2, Brown-Vialetto-Van Laere syndrome type 2, BVVLS2, SLC52A2 Brown-Vialetto-van Laere syndrome — per MONDO

Also identified as

• DOID 0080786 per MONDO
• NCIT C183529 per MONDO
• OMIM 614707 per MONDO
• Orphanet 572550 per MONDO
• UMLS C3553538 per MONDO

Affected Organs