Renpenning syndrome type 1

Summary: Renpenning syndrome is a genetic condition which occurs mostly in males. Signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features. Approximately two-thirds of individuals with Renpenning syndrome have moderate ...1

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Symptoms of Renpenning syndrome type 1

Symptoms: The most common features of Renpenning syndrome include moderate to severe intellectual disability, microcephaly (small head size), short stature, and small testes.[4, 5][6] Differences in facial features found in individuals with this condition include a long and ...2

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Causes of Renpenning syndrome type 1

Cause: Renpenning syndrome is caused by mutations in the polyglutamine-binding protein 1 gene ( PQBP1).[1, 2][3] Last updated: 2/3/2016 ...Source: GARD (NIH)3 ...

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Genetics of Renpenning syndrome type 1

Inheritance: Renpenning syndrome is inherited in an X-linked recessive manner.[1, 2][3] A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In ...4

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Treatments: Renpenning syndrome type 1

Treatment: There is currently no cure for Renpenning syndrome. Management may include early educational intervention and treatment of any associated symptoms such as heart defects or eye abnormalities.[2] Last updated: 2/3/2016 ...Source: GARD (NIH)5 ...

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Names and Terminology

Other Names: RENS1; Mental retardation, X-linked Renpenning type; Sutherland-Haan X-linked mental retardation syndrome; RENS1; Mental retardation, X-linked Renpenning type; Sutherland-Haan ...6

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 9509/ renpenning-syndrome-1
  2. ibid.
  3. ibid.
  4. ibid.
  5. ibid.
  6. ibid.

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