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3M syndrome 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.
Uniprot Description A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels.