Achalasia-microcephaly syndrome

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Achalasia-microcephaly syndrome

An extremely rare genetic syndrome characterized by the association of microcephaly intellectual deficit and achalasia (with symptoms of coughing dysphagia vomiting failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.

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: //www.orphadata.org. Data version October 2023.

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Achalasia-microcephaly syndrome?

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