Clinicians

Adults

  • Family history of a rare condition
  • Cardiac disease (see cardiogenetics)
  • Early onset neurologic diseases (stroke, dementia, Parkinson’s)
  • Vision loss, macular degeneration, retinal disease
  • Joint pain, hypermobility, frequent dislocations, fractures
  • Connective tissue disorders (Ehlers-Danlos syndrome, Marfan Syndrome)
  • Hereditary hemorrhagic telangiectasia
  • Pulmonary diseases: idiopathic pulmonary fibrosis, arterial hypertension
  • Renal diseases: Proteinuria, chronic renal failure, polycystic kidney disease
  • Liver diseases: Wilson’s disease, unknown etiology liver failure
  • Skin conditions, unusual rash or eczema
  • Maturity-onset diabetes of the young (MODY)
  • Hypoglycemia and hyperinsulinemia

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