Amelocerebrohypohidrotic syndrome

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Amelocerebrohypohidrotic syndrome

Synonyms: Epilepsy-dementia-amelogenesis imperfecta syndrome | Kohlschütter-Tönz syndrome

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

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Amelocerebrohypohidrotic syndrome?

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