Asphyxiating thoracic dystrophy 3
Asphyxiating thoracic dystrophy 3
Definition
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
Also known as asphyxiating thoracic dystrophy 3, asphyxiating thoracic dystrophy type 3, ATD3, DYNC2H1-related short rib thoracic dysplasia, polydactyly with neonatal chondrodystrophy type 1, polydactyly with neonatal chondrodystrophy type III, polydactyly with neonatal chondrodystrophy, type 3, Saldino-Noonan syndrome, short rib polydactyly syndrome Verma Naumoff type, short rib-polydactyly syndrome Saldino-Noonan type, short rib-polydactyly syndrome type 1, short rib-polydactyly syndrome type 3, short rib-polydactyly syndrome type III, short rib-polydactyly syndrome, type 2B, short-rib thoracic dysplasia 3 with or without polydactyly, SRPS type 1, SRPS type 3, SRPS1, SRPS2B, SRPS3, SRTD3, type I short rib polydactyly syndrome, Verma-Naumoff syndrome — per MONDO