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Saldino-Mainzer syndrome

Disease definition

Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

ORPHA:140969

Classification level: Disorder
  • Synonym(s):
    • Conorenal syndrome
    • Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: Q87.5
  • OMIM: 266920  615630
  • UMLS: C1849437
  • MeSH: C535463
  • GARD: 8600
  • MedDRA: -
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