achalasia microcephaly syndrome

Term ID

DOID:0050796

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). (3)

References

• GARD:456
• MESH:C536010
• OMIM:200450
• SNOMEDCT_US_2023_03_01:718573009
• UMLS_CUI:C1860212

Ontology

Human Disease   ( DOID:0050796 )