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. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement?
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