Rare Diseases Symptoms Automatic Extraction

[Myopia in systemic disorders].

[cohen syndrome]

Myopia is the most common refractive error Myopia has been well established as a multifactorial disease with both genetic and environmental etiology. A number of genetic loci have been linked with myopia. We have described the prevalence and the symptoms of systemic disorders associated with myopia, including: Stickler syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Weill-Marchesani syndrome, homocystinuria, McCune-Albright syndrome, Kniest syndrome, Down syndrome, Prader-Willi syndrome, Noonan syndrome, Cohen syndrome, Rubinstein-Taybi syndrome, Cornelia de Lange syndrome and fetal alcohol syndrome.

Diseases presenting "homocystinuria" symptom

  • adrenomyeloneuropathy
  • cohen syndrome
  • homocystinuria without methylmalonic aciduria
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency

This symptom has already been validated