nephrogenic diabetes insipidus-intracranial calcification syndrome
ICD-10: N25.1MeSH: C535949ORPHA: 3145
Overview
This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with nephrogenic diabetes insipidus-intracranial calcification syndrome, sourced from HPO and Orphanet clinical annotations.
MicrognathiaConductive hearing impairmentDownslanted palpebral fissuresCarious teethDelayed pubertyIntellectual disabilityGlobal developmental delayLimitation of joint mobilityAbnormality of metabolism/homeostasisCerebral calcificationShort statureAbnormal antihelix morphologyNephrogenic diabetes insipidusHypoplasia of the zygomatic boneSupernumerary toothPolyuriaPolydipsiaNocturiaHyposthenuria
Classification & Codes
ICD-10 Code
N25.1MeSH Code
C535949Orphanet Code
ORPHA:3145nephrogenic diabetes insipidus-intracranial calcification syndrome
| ICD-10 | N25.1 |
| MeSH | C535949 |
| Orphanet | ORPHA:3145 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO