Warsaw breakage syndrome

Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size ...1

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Symptoms of Warsaw breakage syndrome

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Warsaw breakage syndrome

Genetic Changes: Mutations in the DDX11 gene cause Warsaw breakage syndrome . The DDX11 gene provides instructions for making an enzyme called ChlR1. This enzyme functions as a helicase. Helicases are enzymes that attach (bind) to DNA and temporarily unwind the ...2

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)3 ...

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References

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

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