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Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Disease definition

This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.

ORPHA:2579

Classification level: Disorder
  • Synonym(s):
    • Furukawa-Takagi-Nakao syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 158500
  • UMLS: C0342281  C2931765
  • MeSH: C538193
  • GARD: 2417
  • MedDRA: -
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