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, FHHNC with severe ocular involvement, Meier-Blumberg-Imahorn syndrome, bilateral macular coloboma with hypercalciuria ...