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Results 1 - 10 of 11 for Gonadal disorder
  1. Swyer syndrome 
    ... Jin H, Lu X. Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review. ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  2. Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 
    ... Savarirayan R, Zacharin MR. IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. J Pediatr. 2004 Feb; ...
    https://medlineplus.gov/...ypoplasia-congenita-and-genital-anomalies - Genetics
  3. Smith-Kingsmore syndrome 
    ... 5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. Am J Med Genet A. 2017 Jan;173(1):264-267. doi: 10.1002/ajmg.a.37999. Epub 2016 Oct 18. Citation on PubMed
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  4. Müllerian aplasia and hyperandrogenism 
    ... and hyperandrogenism Müllerian aplasia National Organization for Rare Disorders (NORD) MULLERIAN APLASIA AND HYPERANDROGENISM PubMed Bernard P, Harley VR. Wnt4 action in gonadal development and sex determination. Int J Biochem Cell ...
    https://medlineplus.gov/.../mullerian-aplasia-and-hyperandrogenism - Genetics
  5. Perrault syndrome 
    ... Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian ... (NORD) PERRAULT SYNDROME 1; PRLTS1 PERRAULT SYNDROME 4; ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  6. Denys-Drash syndrome 
    ... of these organs leads to diffuse glomerulosclerosis and gonadal dysgenesis, which are characteristic ... DDS Drash syndrome Nephropathy, Wilms tumor, and genital ...
    https://medlineplus.gov/genetics/condition/denys-drash-syndrome - Genetics
  7. Hartsfield syndrome 
    ... Demyer syndrome Hartsfield syndrome ... FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. Am J Med Genet A. 2014 Sep; ...
    https://medlineplus.gov/genetics/condition/hartsfield-syndrome - Genetics
  8. Rhabdoid tumor predisposition syndrome 
    ... syndrome 2 Rhabdoid tumor ... prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. Fam Cancer. 2016 Jan;15(1):123- ...
    https://medlineplus.gov/.../rhabdoid-tumor-predisposition-syndrome - Genetics
  9. Frasier syndrome 
    ... typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia ... Frasier syndrome ...
    https://medlineplus.gov/genetics/condition/frasier-syndrome - Genetics
  10. Sudden infant death with dysgenesis of the testes syndrome 
    Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities ...
    https://medlineplus.gov/...th-with-dysgenesis-of-the-testes-syndrome - Genetics
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