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Nephrogenic diabetes insipidus - intracranial calcification

Orpha number ORPHA3145
Synonym(s) Schofer-Beetz-Bohl syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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 includes Cockayne syndrome (see this term).


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