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Nephrogenic diabetes insipidus-intracranial calcification syndrome

Synonym(s) Schofer-Beetz-Bohl syndrome
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Infancy
  • N21.5
MeSH -
MedDRA -


Disease definition

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


It has been described in two siblings.

Differential diagnosis

Differential diagnosis includes Cockayne syndrome (see this term).

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