Short-Rib Thoracic Dysplasia 14 with Polydactyly (SRTD14)

Short-Rib Thoracic Dysplasia 14 with Polydactyly, also known as srtd14, is related to joubert syndrome 23 and orofaciodigital syndrome. An important gene associated with Short-Rib Thoracic Dysplasia 14 with Polydactyly is KIAA0586 (KIAA0586). Affiliated tissues include brain and pancreas, and related phenotypes are molar tooth sign on mri and cerebellar vermis hypoplasia