Autosomal dominant Robinow syndrome 2
Autosomal dominant Robinow syndrome 2
Definition
Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.
Also known as autosomal dominant Robinow syndrome caused by mutation in DVL1, autosomal dominant Robinow syndrome type 2, DRS2, DVL1 autosomal dominant Robinow syndrome, Robinow syndrome, autosomal dominant type 2 — per MONDO