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alacrima, achalasia, and impaired intellectual development syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation
External Links
- Disease Ontology
- DOID:0112321
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001761 | Pes cavus |
| HP:0000252 | Microcephaly |
| HP:0002093 | Respiratory insufficiency |
| HP:0000846 | Adrenal insufficiency |
| HP:0007002 | Motor axonal neuropathy |
| HP:0000505 | Visual impairment |
| HP:0001252 | Hypotonia |
| HP:0007556 | Plantar hyperkeratosis |
| HP:0001250 | Seizure |
| HP:0002571 | Achalasia |
