The gene thought to cause some of the cases of<unk>  is DIS3L2 found on chromosome 2 at 2q37.2 and is thought to have an important role in the mitotic cell cycle. Although both sexes are affected, the sex ratio of male to female is 2:1. The syndrome has been described in both consanguineous and non-consanguineous couplings. No chromosomal abnormalities have been observed, except for in the case of Chernos et al., which showed a de novo mutation — an extra G positive band, a genetic mutation that neither parent possessed nor transmitted — on the tip of the short arm of chromosome 11.
Perlman syndrome
Trotter's syndrome
Gitelman syndrome
Ortner's syndrome
FG syndrome
Angelman syndrome
Hamman's syndrome
Muir–Torre syndrome