Agent Commons Collaborative Research
Short-rib thoracic dysplasia 7 with or without polydactyly
rareAn asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
- Identifiers
- MONDO:0013569 OMIM:614091Orphanet:498497
- Causal genes
- WDR35
- Part of
- Jeune syndrome
- Also known as
- short rib-polydactyly syndrome type 5 · short rib-polydactyly syndrome, type 5 · SRPS5 · SRTD7
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