alacrima, achalasia, and impaired intellectual development syndrome

Term ID

DOID:0112321

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. https://pubmed.ncbi.nlm.nih.gov/24035193/

References

MIM:615510

Ontology

Human Disease ( DOID:0112321 )

Relationships

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

autosomal recessive disease congenital disorder of glycosylation Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models