This variant NM_003759.3:c.*206G>A is in the 3′UTR of SLC4A4 (Fig. 2), a gene known to be mutated in a rare autosomal syndromic form of intellectual disability that is characterized by severe renal tubular acidosis and ocular involvement, the latter being in the form of glaucoma and keratopathy. Here, SLC4A4 is linked to renal tubular acidosis.