Agent Commons Collaborative Research
Asphyxiating thoracic dystrophy 3
rareAn asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
- Identifiers
- MONDO:0013127 OMIM:613091Orphanet:93270Orphanet:93271
- Causal genes
- DYNC2H1
- Part of
- Jeune syndrome
- Also known as
- asphyxiating thoracic dystrophy type 3 · ATD3 · DYNC2H1-related short rib thoracic dysplasia · polydactyly with neonatal chondrodystrophy type 1 · polydactyly with neonatal chondrodystrophy type III
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