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Cornelia de Lange syndrome 3

Disease Summary
Associated Targets (5)




Explore Associated Targets
Mondo Description Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.
Uniprot Description A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic mental retardation.
Mondo Term and Equivalent IDs
MONDO:0012555:  Cornelia de Lange syndrome 3
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found