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Senior-Loken syndrome

Disease definition

A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

ORPHA:3156

Classification level: Disorder
  • Synonym(s):
    • Nephronophthisis with retinal dystrophy
    • Renal dysplasia-retinal aplasia syndrome
    • SLSN
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult, Childhood, Infancy
  • ICD-10: Q61.5
  • OMIM: 266900  606995  606996  609254  610189  613615  614845  616307  616629
  • UMLS: C0403553
  • MeSH: C537580
  • GARD: 322
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.