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GENATLAS PHENOTYPE

last update : 23-11-2013

Symbol	AAMR
Location	2q35
Name	Alacrima, achalasia, and mental retardation syndrome
Corresponding gene	GMPPA
Main clinical features	hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits at birth or in the first years of life with alacrima, feeding difficulties due to achalasia, and delayed psychomotor development with speech delay
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)