Intellectual disability-alacrima-achalasia syndrome

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Intellectual disability-alacrima-achalasia syndrome

Intellectual disability-alacrima-achalasia syndrome is a rare genetic intellectual disability syndrome characterized by delayed motor and cognitive development absence or severe delay in speech development intellectual disability and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome but differs by the presence of intellectual disability in all affected individuals.

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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