This condition is caused by mutations in the DDX11 gene which is located on the short arm of chromosome 12 (12p11). This gene encodes an iron-sulfur containing DNA helicase that belongs to the superfamily 2 of helicases. This protein interacts with the 9-1-1 checkpoint complex protein. The inheritance pattern is not yet clear.
Warsaw breakage syndrome
Nijmegen breakage syndrome
22q13 deletion syndrome
1p36 deletion syndrome
Chromosome instability syndrome
9q34 deletion syndrome
13q deletion syndrome
2q37 deletion syndrome