Here we present a 16-year-old BVVLS patient belonging to a five generation consanguineous family from Indian ethnicity with two homozygous missense mutations viz., c.421C&gt;A [p.P141T] in SLC52A2 and c.62A&gt;G [p.N21S] in SLC52A3.
C0796274
Brown-Vialetto-Van Laere Syndrome 1