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Juvenile cataract-microcornea-renal glucosuria syndrome

Disease definition

Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.

ORPHA:247794

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 612018
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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