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X-linked chondrodysplasia punctata 2
rareA rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
- Identifiers
- MONDO:0020603 OMIM:302960Orphanet:35173
- Causal genes
- EBP
- Also known as
- CDPX2 · CDPXD · chondrodysplasia punctata 2 X-linked dominant · chondrodysplasia punctata 2, X-linked dominant · chondrodysplasia punctata caused by mutation in EBP
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