<unk>  was formerly referred to as<unk>  association, which indicates a non-random pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. Very few people with<unk>  will have 100% of its known features. In 2004, mutations on the CHD7 gene (located on Chromosome 8) were found in 10 of 17 patients in the Netherlands, making<unk>  an official syndrome. A 2006 US study of 110 individuals with<unk>  showed that 60% of those tested had a mutation of the CHD7 gene. In 2010, a review of 379 clinically diagnosed cases of<unk> , in which CHD7 mutation testing was undertaken found that 67% of cases were due to a CHD7 mutation. CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling.
CHARGE syndrome
GRACILE syndrome
GAPO syndrome
Flynn–Aird syndrome
DeSanto-Shinawi syndrome
Alagille syndrome
Rotor syndrome
Diogenes syndrome