Achalasia microcephaly syndrome

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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.

NIH genetic and rare disease info

Achalasia microcephaly syndrome is a rare disease.


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