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Amelocerebrohypohidrotic syndrome
rareKohlschütter-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.
- Identifiers
- MONDO:0009185 OMIM:226750Orphanet:1946
- Causal genes
- ROGDI
- Part of
- Ectodermal dysplasia syndrome
- Also known as
- epilepsy dementia amelogenesis imperfecta · epilepsy-dementia-amelogenesis imperfecta syndrome · Kohlschutter Tonz syndrome · KOHLSCHUTTER-Tonz syndrome · KTZS
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