Short-rib thoracic dysplasia 13 with or without polydactyly
Short-rib thoracic dysplasia 13 with or without polydactyly
Definition
An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.
Also known as short-rib thoracic dysplasia 13 with or without polydactyly, SRTD13 — per MONDO