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craniosynostosis-intellectual disability-clefting syndrome

Disease Summary
Associated Targets (0)

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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: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found