This condition is caused by mutations in the SLC9A6 gene. This gene is located on the long arm of the X chromosome (Xq26.3).The gene encodes a sodium/hydrogen exchanger located in the endosomes. Mutations in this gene cause a rise in the pH of the endosomes. How this causes the clinical features is not known presently. The inheritance of this condition is X-linked dominant.
Christianson syndrome
Cohen syndrome
Noonan syndrome
Goldenhar syndrome
Sugarman syndrome
Laron syndrome
Kenny-Caffey syndrome
Cohen-Gibson syndrome