The other case patient (R117) had a mutation in KCNJ10, which has been reported as a variant of uncertain significance for the autosomal recessive Seizures, Sensorineural deafness, and Ataxia, Mental retardation, and Electrolyte imbalance (SeSAME) syndrome and has a slightly higher MAF (0.0003) than the rest of the variants found in this cohort. The gene discussed is KCNJ10; the disease is Abnormality of metabolism/homeostasis.