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Fig. 2 : The phenotypes classified as Cornelia de Lange Syndrome (CdLS) can be defined as a spectrum.


Other phenotypes sharing limited signs of CdLS Non-classic CdLS phenotype Classic CdLS phenotype Variant in a gene involved in dysregulated cohesin functioning CdLS spectrum ? Variant in other gene

Fig. 2 | The phenotypes classified as Cornelia de Lange Syndrome (CdLS) can be defined as a spectrum.
All seven identified genes that are associated with CdLS affect the cohesin complex. The CdLS spectrum includes individuals with the classic CdLS phenotype in whom the affected gene has or has not been identified (if a genetic test is unable to identify a CdLS diagnosis, this can be determined through assessment of clinical features). The spectrum also includes individuals with a non-classic CdLS phenotype who have a gene variant affecting the cohesin complex. There are also individuals who carry a gene variant involved in cohesin functioning but present little or no resemblance to the classic CdLS phenotype. These individuals do not fall within the CdLS spectrum. Note that both classic and non-classic CdLS may affect individuals mildly or severely. The question mark in the figure indicates that there may be genes causing CdLS spectrum that do not have a cohesin function; such genes are unknown at present, but they may exist and must not be excluded.

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