Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly (SRTD13)

Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly, also known as srtd13, is related to short-rib thoracic dysplasia 1 with or without polydactyly and developmental and epileptic encephalopathy 25. An important gene associated with Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly is CEP120 (Centrosomal Protein 120), and among its related pathways/superpathways is Ciliopathies. Affiliated tissues include pancreas and bone, and related phenotypes are narrow chest and short long bone