Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly (SRTD1)

Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 1, is related to asphyxiating thoracic dystrophy and joubert syndrome with jeune asphyxiating thoracic dystrophy, and has symptoms including icterus An important gene associated with Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly is DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone and liver, and related phenotypes are skeletal dysplasia and short thorax