Aarskog-Scott syndrome

Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome. People with Aarskog-Scott syndrome often have distinctive facial features ...1

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Symptoms List: Aarskog-Scott syndrome

Symptoms and clinical features may include:2 Clinical Features of Aarskog-Scott Syndrome:

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Genetics of Aarskog-Scott syndrome

Genetic Changes: Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome . The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects ...3

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)4 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ aarskog-scott-syndrome
  2. Source: Human Phenotype Ontology
  3. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ aarskog-scott-syndrome
  4. ibid.

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