Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. The disease is amelocerebrohypohidrotic syndrome (Monarch Disease Ontology id MONDO_0009185). Also known as: Kohlschutter-Tonz syndrome, epilepsy-dementia-amelogenesis imperfecta syndrome.