label: Brown-Vialetto-Van Laere Syndrome 2
label_lc: brown-vialetto-van laere syndrome 2
description: A rare autosomal recessive condition caused by mutation(s) in the SLC52A2 gene, encoding solute carrier family 52, riboflavin transporter, member 2. It is characterized by progressive pontobulbar palsy associated with sensorineural deafness, which may include respiratory compromise.