Example of Autosomal Recessive Disorders

Characteristics of autosomal recessive disorder
  • Males and females equally affected.
  • Both parents are unaffected carriers.
  • Two out of three unaffected siblings are carriers.
  • Increased incidence of parental consanguinity in rare disorders.
Pedigree showing autosomal recessive disorder
Examples of Autosomal recessive disorder
  • Alkaptonuria
  • Albinism 
  • Bartter's syndrome
  • Congenital Adrenal Hyperplasia
  • Cystic fibrosis
  • Deafness(some forms)
  • Endemic goitrous cretinism
  • familial amaurotic idiocy
  • Friedreich ataxia
  • Galactosaemia
  • Gaucher's disease
  • Glycogen storage disease
  • Homocystinuria
  • Hurler Syndrome (MPS I)
  • Oculocutaneous albinism
  • Phenylketonuria
  • Sicke cell Anemia
  • Tay Sachs disease
  • Thalassaemia
  • Wilson's disease
  • Xeroderma pigmentosa
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