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Results 1 - 10 of 18 for Hypospadias "3," autosomal
  1. 5-alpha reductase deficiency 
    ... of 5-alpha reductase deficiency. PPSH Pseudovaginal perineoscrotal hypospadias Steroid 5-alpha-reductase deficiency Genetic Testing Registry: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency ...
    https://medlineplus.gov/.../condition/5-alpha-reductase-deficiency - Genetics
  2. Opitz G/BBB syndrome 
    ... with esophageal abnormalities and hypospadias Hypertelorism-hypospadias sydrome Hypospadias-dysphagia syndrome Opitz BBB syndrome Opitz BBB/G syndrome Opitz G syndrome Opitz syndrome Opitz-Frias syndrome Genetic Testing Registry: Autosomal dominant Opitz G/BBB syndrome Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  3. Axenfeld-Rieger syndrome 
    ... the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.Researchers have described at least three types of Axenfeld-Rieger syndrome. The types, which ...
    https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome - Genetics
  4. Dilated cardiomyopathy with ataxia syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. 3-methylglutaconic aciduria type V DCMA DCMA syndrome DNAJC19 ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  5. 3-beta-hydroxysteroid dehydrogenase deficiency 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. 3 beta-HSD deficiency 3 beta-ol dehydrogenase deficiency ...
    https://medlineplus.gov/...a-hydroxysteroid-dehydrogenase-deficiency - Genetics
  6. Genital and Urinary Tract Defects (March of Dimes Foundation)  
    Birth Defects/Specifics ... Birth Defects ... March of Dimes Foundation
    https://www.marchofdimes.org/.../genital-and-urinary-tract-defects - External Health Links
  7. 17-beta hydroxysteroid dehydrogenase 3 deficiency 
    ... adolescents, including those with 17-beta hydroxysteroid dehydrogenase 3 deficiency.A portion of the ... This condition is inherited in an autosomal recessive pattern, which means both copies of the ...
    https://medlineplus.gov/...hydroxysteroid-dehydrogenase-3-deficiency - Genetics
  8. 10q26 deletion syndrome 
    ... urethra opening on the underside of the penis (hypospadias). Some people with 10q26 deletion syndrome ... with a 10q26 deletion syndrome are missing between 3.5 million and 17 million DNA building blocks ( ...
    https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome - Genetics
  9. Bowen-Conradi syndrome 
    ... the urethra on the underside of the penis (hypospadias) or undescended testes ... per 355 newborns in all three Hutterite sects (leuts). A few individuals from outside ...
    https://medlineplus.gov/genetics/condition/bowen-conradi-syndrome - Genetics
  10. 17 alpha-hydroxylase/17,20-lyase deficiency 
    ... the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid ... deficiency. CYP17A1 This condition is inherited in an autosomal recessive pattern, which means both copies of the ...
    https://medlineplus.gov/...-alpha-hydroxylase-17-20-lyase-deficiency - Genetics
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