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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:0000962 | Hyperkeratosis |
| HP:0009916 | Anisocoria |
| HP:0000639 | Nystagmus |
| HP:0011968 | Feeding difficulties |
| HP:0001249 | Intellectual disability |
| HP:0003623 | Neonatal onset |
| HP:0000508 | Ptosis |
| HP:0001611 | Hypernasal speech |
| HP:0000325 | Triangular face |
| HP:0001263 | Global developmental delay |
