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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
    Remark(s)