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Amelocerebrohypohidrotic syndrome

Disease definition

A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

ORPHA:1946

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
  • ICD-11: LD27.0Y
  • OMIM: 226750
  • UMLS: C0406740
  • MeSH: C537213
  • GARD: 3128
  • MedDRA: -

  A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015) Deutsch (2006) Français (2006) Polski ()

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.