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Renal hypomagnesemia 2
rareAutosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.
- Identifiers
- MONDO:0007937 OMIM:154020Orphanet:34528
- Causal genes
- FXYD2
- Also known as
- familial primary hypomagnesemia caused by mutation in FXYD2 · FXYD2 familial primary hypomagnesemia · FXYD2 primary hypomagnesemia · HOMG2 · hypomagnesemia 2, renal
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