Alacrima, Achalasia, and Impaired Intellectual Development Syndrome (AAMR)

Alacrima, Achalasia, and Impaired Intellectual Development Syndrome, also known as alacrima, achalasia, and mental retardation syndrome, is related to syndromic x-linked intellectual disability 17 and inherited metabolic disorder, and has symptoms including lethargy and neurobehavioral manifestations. An important gene associated with Alacrima, Achalasia, and Impaired Intellectual Development Syndrome is GMPPA (GDP-Mannose Pyrophosphorylase A), and among its related pathways/superpathways are Extracellular matrix organization and Copper homeostasis. The drugs Zonisamide and Felbamate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and brain, and related phenotypes are global developmental delay and delayed speech and language development