Taxon:

Human

Gene:

"Cornelia de Lange syndrome"

Chromosome:

05

Location:

5p13.1

Description:

Cornelia de Lange (Brachmann-de Lange) syndrome shows a variable phenotype with growth retardation, facial dysmorphism including micrognathia, microbrachycephaly, small hands and feet, and mental retardation. In an early report, in almost all convincing autosomal dominant cases the transmitting parent was the mother (de Die-Smulders C et al, 1992). However, paternal transmission (and a review of the inheritance patterns) is provided by Russell et al (2001).

Category:

Other

Record:

66

Last Modified 4/30/2010

Links:

OMIM   


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