Amelocerebrohypohidrotic syndrome
Amelocerebrohypohidrotic syndrome
Definition
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.
Also known as amelocerebrohypohidrotic syndrome, epilepsy-dementia-amelogenesis imperfecta syndrome, Kohlschutter-Tonz syndrome — per MONDO