Human genes for alacrima, achalasia, and impaired intellectual development syndrome
Alacrima, achalasia, and impaired intellectual development syndrome [DOID:0112321]
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 GMPPA on chromosome 2q35.
Synonyms: alacrima, achalasia, and impaired intellectual development syndrome, alacrima achalasia and impaired intellectual development syndrome, alacrima, achalasia, and impaired intellectual development disease, alacrima, achalasia, and impaired intellectual development disorder, and impaired intellectual development syndrome alacrima, achalasia ...