Rhizomelic chondrodysplasia punctata type 2
Other Names for this Disease
- Dihydroxyacetonephosphate acyltransferase deficiency
- DHAPAT deficiency
- Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
- Type 2 rhizomelic chondrodysplasia punctata
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
Tests & Diagnosis
On this page
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.