Autism spectrum disorder - epilepsy - arthrogryposis syndrome

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

Also known as: SLC35A3-CDG, arthrogryposis, impaired intellectual development, and seizures, AMRS, arthrogryposis, intellectual disability, and seizures, arthrogryposis, mental retardation, and seizures

64 clinical trials for this condition and its sub-types.