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The following is a list of pathologies1 that are often hereditary and which are advised to investigate their presence in the family medical history.

NOTE: The list of pathologies described may not be exhaustive.

Neurology

  • Down’s Syndrome
  • Tourette syndrome
  • Patau’s syndrome
  • West Syndrome
  • Crouzon Syndrome
  • Fragile X chromosome syndrome
  • Huntington’s disease
  • Batten Disease
  • Alzheimer disease
  • Parkinson’s Disease
  • Ictus
  • Amyotrophic Lateral Sclerosis
  • Adrenoleukodystrophy
  • Angelman’s Syndrome
  • Ataxia telangiectasia
  • Charcot-Marie-Tooth Syndrome
  • Cockayne’s Syndrome
  • Deafness
  • Duchenne muscular dystrophy
  • Epilepsy
  • Fragile X syndrome
  • Friedreich’s ataxia
  • Gaucher disease
  • Lesch-Nyhan syndrome
  • Menkes Syndrome
  • Myotonic dystrophy
  • Narcolepsy
  • Neurofibromatosis
  • Niemann-Pick disease
  • Phenylketonuria
  • Prader-Willi syndrome
  • Refsum Disease
  • Rett Syndrome
  • Spinal muscular atrophy
  • Spinocerebellar ataxia
  • Tangier disease
  • Tay-Sachs disease
  • Tuberous sclerosis
  • Von Hippel-Lindau Syndrome
  • Williams syndrome
  • Wilson’s disease
  • Zellweger syndrome