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Rhizomelic chondrodysplasia punctata type 1
Other Names for this Disease
- Chondrodysplasia punctata rhizomelic form
- Chondrodystrophia calcificans punctata
Tests & Diagnosis
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- 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.