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Inherited and genetic conditions summary

Inherited and genetic conditions are caused by your genes. Some are passed to you by your parents, while others are caused by random gene changes that happen before you're born. They include sickle cell anaemia and Down syndrome.

Inherited and genetic conditions

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Alkaptonuria
Ehlers-Danlos syndromes
DiGeorge syndrome (22q11 deletion)
Glutaric aciduria type 1
Down's syndrome
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Androgen insensitivity syndrome
Hirschsprung's disease
Spinal muscular atrophy
Isovaleric acidaemia
Patau's syndrome
Maple syrup urine disease
Epidermolysis bullosa
Prader-Willi syndrome
Rett syndrome
Genetics
Ichthyosis
Edwards' syndrome (trisomy 18)
Neurofibromatosis type 2
Huntington's disease
Tay-Sachs disease
Cystic fibrosis
Trimethylaminuria ('fish odour syndrome')
Charcot-Marie-Tooth disease
Muscular dystrophy
Turner syndrome
Neurofibromatosis type 1
Klinefelter syndrome
Hereditary neuropathy with pressure palsies (HNPP)
Nail patella syndrome
Marfan syndrome
Tuberous sclerosis
Phenylketonuria
Angelman syndrome
Hereditary haemorrhagic telangiectasia (HHT)

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