Alacrima, Achalasia, and Mental Retardation Syndrome

Alternative Names

  • AAMR
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

OMIM Number

615510

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q35

Description

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features 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. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615510.1United Arab EmiratesMaleNoYes Episodic vomiting; Achalasia; Global dev... NM_013335.4:c.922G>AHomozygousAutosomal, RecessiveAlabdullatif et al. 2017
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