achalasia microcephaly syndrome (DOID:0050796)
Alliance: disease page
Synonyms: Achalasia microcephaly; ACHALASIA-MICROCEPHALY SYNDROME
Alt IDs: OMIM:200450, MESH:C536010, UMLS_CUI:C1860212
Definition: A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).