nephrogenic diabetes insipidus-intracranial calcification syndrome
MONDO:0009099Mondo
Findings
No curated finding names nephrogenic diabetes insipidus-intracranial calcification syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0009099), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal antihelix morphologyHPOHP:0009738
- Very frequent (80% to 99% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
- Very frequent (80% to 99% of cases)
- Cerebral calcificationHPOHP:0002514
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Nephrogenic diabetes insipidusHPOHP:0009806
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Supernumerary toothHPOHP:0011069
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: nephrogenic diabetes insipidus-intracranial calcification syndrome
- Also called
- Schofer-Beetz-Bohl syndrome