Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly (SRTD8)

Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly, also known as srtd8, is related to short-rib thoracic dysplasia 7 with or without polydactyly and orofaciodigital syndrome iv. An important gene associated with Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly is DYNC2I1 (Dynein 2 Intermediate Chain 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include pancreas and liver, and related phenotypes are macrocephaly and failure to thrive