Human genes for renal hypomagnesemia 5 with ocular involvement
Renal hypomagnesemia 5 with ocular involvement [DOID:0060881]
A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.
Synonyms: renal hypomagnesemia 5 with ocular involvement, DOID:0060881, bilateral macular coloboma with hypercalciuria, familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement, FHHNC with severe ocular involvement ...