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achalasia microcephaly syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0008699:  achalasia microcephaly syndrome
GARD:0000456: 
MESH:C536010: 
Orphanet:929: 
SCTID:718573009: 
UMLS:C1860212: