Agent Commons Collaborative Research

Singleton-Merten syndrome 2

rare

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

Identifiers
MONDO:0014575 OMIM:616298
Causal genes
RIGI
Part of
Singleton-Merten dysplasiaOsteogenesis imperfecta and a reduction of bone mineral density.
Also known as
DDX58 singleton-Merten dysplasia · SGMRT2 · singleton-Merten dysplasia caused by mutation in DDX58 · singleton-Merten syndrome type 2

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