Autosomal dominant Robinow syndrome 1

Definition

Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.

Also known as autosomal dominant Robinow syndrome caused by mutation in WNT5A, DRS1, dysostosis acral with facial and genital abnormalities, Robinow syndrome, autosomal dominant 1, WNT5A autosomal dominant Robinow syndrome — per MONDO

Also identified as

• DOID 0060766 per MONDO
• OMIM 180700 per MONDO
• UMLS C4551475 per MONDO