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GENATLAS PHENOTYPE

last update : 09-04-2014

Symbol	AMRS
Location	1p21.2
Name	arthrogryposis, mental retardation, and seizures
Corresponding gene	SLC35A3
Main clinical features	arthrogryposis, mental retardation, autism spectrum disorder, and epilepsy delayed psychomotor development followed by mild to moderate mental retardation and autistic features at birth, knee and hip dislocation with dysplasia of the acetabuli and flexion contractures of the fingers, brain MRI was normal microcephaly, retromicrognathia, and general muscle hypotonia
Genetic determination	autosomal recessive
Function/system disorder	neurology
	mental retardation
	osteo-articular
Type	disease

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