» What causes Cornelia de Lange Syndrome

Comparison of the main clinical findings
NIPBL
SMC1A
SMC3
RAD21
BRD4
HDCA8
ANKRD11
Other genes
Mosaicism
Family Recurrence Risk
Summary section (What causes Cornelia de Lange Syndrome)

ANKRD11

Changes in the gene ANKRD11 have been reported in several individuals with a non-classic CdLS phenotype (24, 43), and others have been noted in several clinical observations. Individuals with changes in ANKRD11 show features that overlap with the facial characteristics and suggestive features of CdLS (see Box 1, page 5).