| Disease ID | Source | Name | Description |
| 615510 | OMIM | Alacrima, achalasia, and mental retardation syndrome (AAMR) | An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. The disease is caused by variants affecting the gene represented in this entry. |