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Definition

A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3.

Acronym

HOMG5

Synonyms

Familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement
FHHNC with severe ocular involvement
Hypomagnesemia 5
Hypomagnesemia 5 renal with ocular involvement
Hypomagnesemia renal with ocular involvement
Macular coloboma bilateral with hypercalciuria

Keywords

Primary hypomagnesemia

 
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