Short-Rib Thoracic Dysplasia 12 (SRTD12)

Short-Rib Thoracic Dysplasia 12, also known as beemer-langer syndrome, is related to short rib-polydactyly syndrome and cranioectodermal dysplasia 1, and has symptoms including edema An important gene associated with Short-Rib Thoracic Dysplasia 12 is EVC2 (EvC Ciliary Complex Subunit 2), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include pancreas and liver, and related phenotypes are macrocephaly and hydrocephalus