Orphanet: Nephrogenic diabetes insipidus intracranial calcification short stature facial dysmorphism syndrome

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Disease definition

A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.

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Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome

ORPHA:3145

A summary on this disease is available in Español (2007) Français (2007) Nederlands (2007)

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