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Other Names for this Disease
- Hirschsprung disease mental retardation syndrome
- Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease
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.