12.08.28 Modes of inheritance

Autosomal dominant

Familial hypercholesterolemia (1/500)

Autosomal dominant polycystic kidney disease (1/1250)

Neurofibromatosis type I (1/2,500)

Hereditary spherocytosis (1/5,000)

Marfan syndrome (1/4,000)

Huntington's disease (1/15,000)

Myotonic dystrophy

Neurofibromatosis (types I and II)

FAP

Achondroplasia

Osteogenesis imperfecta type 1

Autosomal recessive

Sickle cell anemia (1/625)

Cystic fibrosis (1/2,000)

Lysosomal acid lipase deficiency (1/40,000)

Tay-Sachs disease (1/3,000)

Phenylketonuria (1/12,000)

Mucopolysaccharidoses (1/25,000)

Glycogen storage diseases (1/50,000)

Galactosemia (1,57,000)

Spinal muscular atrophy

Thalassaemias

Haemochromatosis

Autosomal recessive PKD

X-linked recessive

Duchenne muscular dystrophy (1/7,000)

Hemophilia (1/10,000)

Becker muscular dystrophy

Colour blindness

G6PD deficiency

X-linked dominant

Fragile X

Rett syndrome

Hypophosphataemic rickets