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Nephrogenic diabetes insipidus-intracranial calcification syndrome
rareThis syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.
- Identifiers
- MONDO:0009099 OMIM:221995Orphanet:3145
- Also known as
- diabetes insipidus nephrogenic intellectual disability and intracerebral calcification · diabetes insipidus nephrogenic mental retardation and intracerebral calcification · diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification · Schofer Beetz Bohl syndrome · Schofer-Beetz-Bohl syndrome
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