Friday 25 August 2017

The list of autosomal dominant disorders are:





achondroplasia antithrombin III deficiency
C1 esterase inhibitor deficiency Ehlers-Danlos syndrome Familial hypercholesterolaemia Gilbert's disease
hereditary haemorrhagic telangiectasia hereditary elliptocysis,
hereditary spherocytosis
Huntington's disease
idiopathic hypoparathyroidism intestinal polyposis
marble bone disease Marfan's syndrome neurofibromatosis
Peutz Jegher’s syndrome polycystic kidney disease (adult) protein C deficiency
osteogenesis imperfecta Treacher Collins syndrome tuberous sclerosis
Von Willebrand's disease

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