Version: 8.0.0
Date: Tue Jan 28 2025
achalasia microcephaly syndrome
DOID:0050796
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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).
Synonyms
  • Achalasia microcephaly
  • ACHALASIA-MICROCEPHALY SYNDROME
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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