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Mendelian Disorders List

Autosomal recessive disorders 

  • Sickle cell disease
  • Cystic fibrosis 
  • alpha-1 antitrypsin deficiency
  • 21-hydroxylase deficiency
  • Wilson's disease
  • Thalassemia 


Autosomal dominant disorders

  • Hereditary angioedema(C1 esterase inhibitor deficiency)
  • Hereditary spherocytosis
  • Familial Hypercholestrolemia
  • Neurofibromatosis 
  • Huntington's disease
  • Osteogenesis imperfecta
  • Achondroplasia
  • Tuberous sclerosis


X-linked recessive disorders

  • Glucose-6-phosphate dehydrogenase deficiency
  • Duchenne's muscular dystrophy
  • Hemophilia A
  • Hunter's syndrome
  • Fragile X syndrome
  • Lesch-Nyhan syndrome
  • Testicular feminization
  • Chronic granulomatous disease
  • Bruton's agammaglobulinemia 


X-linked dominant disorders

  • Vitamin D-resistant rickets
  • Alport's syndrome