/nephrogenic diabetes insipidus-intracranial calcification syndrome

nephrogenic diabetes insipidus-intracranial calcification syndrome

Rare Disease

MONDO:0009099

Also Known As

Schofer-Beetz-Bohl syndromeSchofer Beetz Bohl syndromediabetes insipidus nephrogenic intellectual disability and intracerebral calcificationdiabetes insipidus nephrogenic mental retardation and intracerebral calcificationdiabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcificationdiabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification

Definition

This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.