Short-rib thoracic dysplasia 9 with or without polydactyly
Short-rib thoracic dysplasia 9 with or without polydactyly
Definition
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
Also known as Conorenal syndrome, Mainzer Saldino syndrome, Mainzer-Saldino syndrome, renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome, Saldino-Mainzer syndrome, short-rib thoracic dysplasia 9 with or without polydactyly, SRTD9 — per MONDO