| Metadata | |
|---|---|
| ID | DOID:0112321 |
| Name | alacrima, achalasia, and impaired intellectual development 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/ |
| Xrefs | |
| Synonyms |
AAMR [EXACT] alacrima, achalasia, and mental retardation syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |