Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
ORPHA:3145· ICD-10 N25.1
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy