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last update : 16-01-2010
Symbol HHRO
Location 1p34.2
Name hypomagnesemia, renal failure, and severe ocular abnormalities
Corresponding gene CLDN19
Other symbol(s) HOMG5
Main clinical features
  • severe hypomagnesemia due to renal wasting, nephrocalcinosis, and progressive renal failure, with severe ocular involvement, macular colobomata and nystagmus
  • Genetic determination autosomal recessive
    Function/system disorder eye
    kidney and urinary tract
    Type disease