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Cornelia de Lange syndrome 3
Genetics:
- associated with defects in SMC3 gene
Clinical manifestations:
- mild form of Cornelia de Lange syndrome (CDLS)
- absence of major structural anomalies typically associated with CDLS
- phenotype in some cases approaches that of apparently non-syndromic mental retardation
General
Cornelia de Lange syndrome
References
UniProt :accession Q9UQE7