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Results 1 - 7 of 7 for Autosomal recessive polycystic kidney disease
  1. PKHD1 gene 
    ... people with polycystic kidney disease. These mutations cause autosomal recessive polycystic kidney disease (ARPKD), which is a severe type of the ... M, Buttner R, Zerres K. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2004 May;23(5):453- ...
    https://medlineplus.gov/genetics/gene/pkhd1 - Genetics
  2. Polycystic kidney disease 
    ... PKD2 mutation.Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. This gene provides instructions for making a protein ... gene. PKD Polycystic renal disease ... Testing Registry: Autosomal recessive polycystic kidney disease Genetic Testing Registry: Autosomal dominant polycystic kidney disease ...
    https://medlineplus.gov/genetics/condition/polycystic-kidney-disease - Genetics
  3. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... Hair texture Hair color (light or dark hair) Autosomal recessive spastic ataxia of ... Bloom syndrome Canavan disease PMM2 -congenital ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  4. Congenital hepatic fibrosis 
    ... Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated ... mutations). The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/.../condition/congenital-hepatic-fibrosis - Genetics
  5. Oral-facial-digital syndrome 
    ... oral-facial-digital syndrome are inherited in an autosomal recessive pattern, which suggests that both copies of a ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  6. Joubert syndrome 
    ... TMEM67 TTC21B ZNF423 Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  7. Glycogen storage disease type I 
    ... G6PC1 SLC37A4 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics