Orphanet: Achalasia microcephaly syndrome
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Achalasia-microcephaly syndrome

Disease definition

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.

ORPHA:929

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q39.5
  • OMIM: 200450
  • UMLS: C1860212
  • MeSH: C536010
  • GARD: 456
  • MedDRA: -
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