Asphyxiating thoracic dystrophy 3
MONDO:0013127An 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
53 clinical trials for this condition and its sub-types.
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