|OBO ID: DOID:0112321|
|Term Name:||alacrima, achalasia, and impaired intellectual development syndrome||Search Ontology:|
|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 GMPPA on chromosome 2q35. https://pubmed.ncbi.nlm.nih.gov/24035193/|
|Ontology:||Human Disease (DOID:0112321)|
|is a type of:||
OTHER alacrima, achalasia, and impaired intellectual development syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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