Singleton-Merten syndrome 1

Definition

Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.

Also known as IFIH1 singleton-Merten dysplasia, singleton-Merten dysplasia caused by mutation in IFIH1 — per MONDO

Also identified as

• OMIM 182250 per MONDO
• UMLS C4225427 per MONDO