Asphyxiating thoracic dystrophy 1
Asphyxiating thoracic dystrophy 1
Definition
An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
Also known as asphyxiating thoracic dystrophy 1, asphyxiating thoracic dystrophy type 1, ATD1, short-rib thoracic dysplasia 1 with or without polydactyly, SRTD1 — per MONDO