Term Name: | achalasia microcephaly syndrome |
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Synonyms: | Achalasia microcephaly, ACHALASIA-MICROCEPHALY SYNDROME |
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). |
Ontology: | Human Disease [DOID:0050796] ( DOID:0050796 ) |