Term Name: achalasia microcephaly syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome