Arthrogryposis, mental retardation, and seizures

Definition:

Arthrogryposis, mental retardation, and seizures (AMRS) is a neuroskeletal disorder comprising autism spectrum disorder (ASD), epilepsy, and arthrogryposis. Mutations in the SLC35A3 gene are associated with AMRS. The gene encodes a UDP-GlcNAc transporter, and the mutations abolish its activity.

References:

[1]. Simon Edvardson, et al. Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. J Med Genet. 2013 Nov;50(11):733-9. [Content Brief]

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