familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).
MONDO:0018100
familial primary hypomagnesemia
is_a
FHHNC
exact
Michellis-Castrillo syndrome
exact