Term Name: | alacrima, achalasia, and impaired intellectual development syndrome |
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Synonyms: | AAMR, alacrima, achalasia, and mental retardation 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. |
Ontology: | Human Disease [DOID:0112321] ( DOID:0112321 ) |