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Metadata
ID	DOID:0112321
Name	alacrima, achalasia, and impaired intellectual development syndrome
Definition	A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. https://pubmed.ncbi.nlm.nih.gov/24035193/
Xrefs	MIM:615510
Synonyms	AAMR [EXACT] alacrima, achalasia, and mental retardation syndrome [EXACT]
Parent Relationships	is_a congenital disorder of glycosylation is_a autosomal recessive disease