Orphanet: Autism spectrum disorder epilepsy arthrogryposis syndrome

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Autism spectrum disorder-epilepsy-arthrogryposis syndrome

Disease definition

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).


Classification level: Disorder
  • Synonym(s):
    • SLC35A3-CDG
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 615553
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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