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Nephrogenic diabetes insipidus-intracranial calcification syndrome

Disease definition

This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.

ORPHA:3145

  • Synonym(s):
    • Schofer-Beetz-Bohl syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: N21.5
  • OMIM: 221995
  • UMLS: -
  • MeSH: -
  • GARD: 259
  • MedDRA: -

Additional information

Further information on this disease

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