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Thyrocerebrorenal syndrome

Disease definition

A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.

ORPHA:3327

Classification level: Disorder
  • Synonym(s):
    • Cutler-Bass-Romshe syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: N15.8
  • OMIM: 274240
  • UMLS: C1848813
  • MeSH: -
  • GARD: 1646
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Additional information

Further information on this disease

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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.