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Results 1 - 8 of 8 for Ovarian dysgenesis 2
  1. Perrault syndrome 
    ... recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian dysgenesis with sensorineural deafness Genetic Testing Registry: Perrault syndrome Genetic Testing Registry: Perrault syndrome 2 Genetic Testing Registry: Perrault syndrome 4 Genetic Testing ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  2. HSD17B4 gene 
    ... Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010. ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  3. HARS2 gene 
    ... Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc ...
    https://medlineplus.gov/genetics/gene/hars2 - Genetics
  4. Leukoencephalopathy with vanishing white matter 
    ... females may have abnormal development of the ovaries (ovarian dysgenesis). Specific changes in the brain as seen using ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  5. NR5A1 gene 
    ... of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency. Eur J Endocrinol. 2007 Aug;157(2):233-8. doi: 10.1530/EJE-07-0113. ...
    https://medlineplus.gov/genetics/gene/nr5a1 - Genetics
  6. WNT4 gene 
    ... and adult ovaries and its signaling contributes to ovarian cell survival. Mol Cell Endocrinol. 2010 Apr 12;317(1-2):106-11. doi: 10.1016/j.mce.2009. ...
    https://medlineplus.gov/genetics/gene/wnt4 - Genetics
  7. Turner syndrome 
    ... but egg cells usually die prematurely and most ovarian tissue breaks down before birth. Many affected individuals ... percentage of people with Turner syndrome retain normal ovarian function through young adulthood.About 30 percent of ...
    https://medlineplus.gov/genetics/condition/turner-syndrome - Genetics
  8. SRY gene 
    ... syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex ... XY difference of sex development, or partial gonadal dysgenesis. The effects of these variants on the function ...
    https://medlineplus.gov/genetics/gene/sry - Genetics