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