Genetic Disorders
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Albinism
Autosomal recessive
ataxic telangectasia
autosomal recessive
Congenital adrenal hyperplasia
autosomal recessive
cystic fibrosis
autosomal recessive
Cystinuria
autosomal recessive
Familial Mediterranean Fever
autosomal recessive
Fanconi anaemia
autosomal recessive
Friedreich’s ataxia
autosomal recessive
Gilbert’s syndrome
autosomal recessive
Glycogen storage disease
autosomal recessive
Haemochromatosis
autosomal recessive
Homocystinuria
autosomal recessive
Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick
autosomal recessive
Mucopolysaccharidoses: Hurler’s
autosomal recessive
PKU
autosomal recessive
Sickle cell anaemia
autosomal recessive
Thalassaemias
autosomal recessive
Wilson’s disease
autosomal recessive
Achondroplasia
autosomal dominant
Acute intermittent porphyria
autosomal dominant
Antithrombin III deficiency
autosomal dominant
Adult polycystic disease
autosomal dominant
Ehlers-Danlos syndrome
autosomal dominant
Familial adenomatous polyposis
autosomal dominant