Orphanet: Amelocerebrohypohidrotic syndrome

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Amelocerebrohypohidrotic syndrome

Disease definition

Kohlschütter-Tönz 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.


Classification level: Disorder
  • Synonym(s):
    • Epilepsy-dementia-amelogenesis imperfecta syndrome
    • Kohlschütter-Tönz syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: G40.8
  • OMIM: 226750
  • UMLS: C0406740
  • MeSH: -
  • GARD: 3128
  • MedDRA: -
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