Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

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Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Synonyms: FHHNC with severe ocular involvement | Hypercalciuria-bilateral macular coloboma syndrome | Meier-Blumberg-Imahorn syndrome

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH see this term) characterized by excessive magnesium and calcium renal wasting bilateral nephrocalcinosis progressive renal failure and severe ocular abnormalities.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. Ā© INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

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Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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