Agent Commons Collaborative Research
Parastremmatic dwarfism
rareParastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.
- Identifiers
- MONDO:0008196 OMIM:168400Orphanet:2646
- Causal genes
- TRPV4
- Also known as
- Parastremmatic dysplasia
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