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Schwartz Jampel syndrome type 1
Other Names for this Disease
- Chondrodystrophic myotonia
- Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
- Schwartz Jampel Aberfeld syndrome
- Schwartz Jampel syndrome
- SJA syndrome
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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.