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3MC syndrome 2

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.
Uniprot Description A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.
Mondo Term and Equivalent IDs
MONDO:0009927:  3MC syndrome 2
EFO:1001977: 
MESH:C535586: