Term Name: alacrima, achalasia, and impaired intellectual development syndrome
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 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation