Singleton-Merten syndrome 2

Definition

Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.

Also known as DDX58 singleton-Merten dysplasia, singleton-Merten dysplasia caused by mutation in DDX58, singleton-Merten syndrome 2, singleton-Merten syndrome type 2 — per MONDO

Also identified as

• OMIM 616298 per MONDO
• UMLS C4225380 per MONDO