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.
Examples of Autosomal recessive disorder
- Alkaptonuria
- AlbinismÂ
- 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