Asphyxiating thoracic dystrophy 3

MONDO:0013127

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.

Also known as: ATD3, DYNC2H1-related short rib thoracic dysplasia, SRPS type 1, SRPS type 3, SRPS1, SRPS2B, SRPS3, SRTD3

1 clinical trial for this condition and its sub-types, 0 tagged with Asphyxiating thoracic dystrophy 3 itself.

Where it sits in the disease tree

Part of

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.