Orphanet: RHYNS syndrome

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RHYNS syndrome

Disease definition

RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.


Classification level: Disorder
  • Synonym(s):
    • Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: -
  • OMIM: 602152
  • UMLS: C1865794
  • MeSH: C537612
  • GARD: 9681
  • MedDRA: -
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