Alternative titles and symbols : Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly;
Description : Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic
hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations
(Biesecker et al., 1996).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutations in the GLI-Kruppel family member 3 gene (GLI3, 165240.0002);