An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
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asphyxiating thoracic dystrophy 1
MONDO:0008831
Ellis-van Creveld syndrome
MONDO:0009162
short-rib thoracic dysplasia 6 with or without polydactyly
MONDO:0009894
short-rib thoracic dysplasia 9 with or without polydactyly
MONDO:0009964
Beemer-Langer syndrome
MONDO:0010024
asphyxiating thoracic dystrophy 2
MONDO:0012644