Donnai-Barrow syndrome

Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat ...1

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Symptoms of Donnai-Barrow syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Genetics of Donnai-Barrow syndrome

Genetic Changes: Mutations in the LRP2 gene cause Donnai-Barrow syndrome . The LRP2 gene provides instructions for making a protein called megalin, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit ...2

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Names and Terminology

Other Names for This Condition

Source ...3

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ donnai-barrow-syndrome
  2. ibid.
  3. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.