ROGDI and Amelo-cerebro-hypohidrotic syndrome: Biallelic mutations in the ROGDI gene are associated with Kohlschutter-Tönz syndrome (OMIM# 226750), which is characterized by global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth.