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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ochoa syndrome


Other Names for this Disease
  • Hydronephrosis with peculiar facial expression
  • Urofacial syndrome
  • Inverted smile and occult neuropathic bladder
  • Partial facial palsy with urinary abnormalities
  • Urofacial Ochoa's syndrome
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

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Is genetic testing available for Ochoa syndrome?

While the gene responsible for Ochoa syndrome has recently been identified, genetic testing does not appear to be widely available at this time.
Last updated: 8/3/2010


Testing

  • 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.
Other Names for this Disease
  • Hydronephrosis with peculiar facial expression
  • Urofacial syndrome
  • Inverted smile and occult neuropathic bladder
  • Partial facial palsy with urinary abnormalities
  • Urofacial Ochoa's syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.