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

53 clinical trials for this condition and its sub-types.

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