You are using an outdated browser. Please upgrade your browser to improve your experience.

craniosynostosis-intellectual disability-clefting syndrome

Disease Summary
Associated Targets ()

Mondo Description A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.
Mondo Term and Equivalent IDs
MONDO:0009041:  craniosynostosis-intellectual disability-clefting syndrome
GARD:0000817: 
GARD:0001599: 
MESH:C537906: 
MESH:C565663: 
UMLS:C1857472: 
UMLS:C2931663: