The SLC13A5 individual in our panel, is an individual described with SLC13A5 variant discovered through GenoDENT panel after the identification of the gene by WES in another family of the Schossig et al., 2017 cohort (Schossig et al., 2017) with a phenotype described as Kohlschütter-Tonz like syndrome (KTS). The gene discussed is SLC13A5; the disease is Kohlschutter-Tonz syndrome-like.