Chondrodysplasia punctata 1, X-linked recessive
Other Names for this Disease
- Arylsulfatase E deficiency
- Brachytelephalangic chondrodysplasia punctata
- Chondrodysplasia punctata 1 X-linked recessive
- Chondrodysplasia punctata brachytelephalangic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.