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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
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