A pleiotropic disorder of human development that comprises hypothalamic hamartoma; central and postaxial polydactyly; bifid epiglottis; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a kruppel-like transcription factors family member.

We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.