autosomal recessive disease achalasia microcephaly syndrome https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome https://www.malacards.org/card/achalasia_microcephaly_syndrome_2 MESH:C536010 Orphanet:929 MEDGEN:349753 Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, 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. An autosomal recessive inheritance has been proposed. OMIM:200450 SCTID:718573009 DOID:0050796 GARD:0000456 MONDO:0008699 UMLS:C1860212 achalasia-microcephaly syndrome Achalasia - microcephaly