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alacrima, achalasia, and intellectual disability syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0014219:  alacrima, achalasia, and intellectual disability syndrome
GARD:0012404: 
UMLS:C3809738: