Also Known As
FHHNC with severe ocular involvementFHHNCOIMeier-Blumberg-Imahorn syndromebilateral macular coloboma with hypercalciuriafamilial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvementhypercalciuria-bilateral macular coloboma syndromeHOMG5Meier Blumberg Imahorn syndromefamilial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvementhypomagnesemia 5, renal, with ocular involvementhypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvementhypomagnesemia, renal, with ocular involvementidiopathic hypercalciuria with bilateral macular colobomatamacular coloboma, bilateral, with hypercalciuria
Definition
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.