KEGG   DISEASE: Arthrogryposis, mental retardation, and seizures
Entry
H01392                      Disease                                
Name
Arthrogryposis, mental retardation, and seizures
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H01392  Arthrogryposis, mental retardation, and seizures
Gene
SLC35A3 [HSA:23443] [KO:K15272]
Other DBs
ICD-11: LD26.41
OMIM: 615553
Reference
PMID:24031089
  Authors
Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O
  Title
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
  Journal
J Med Genet 50:733-9 (2013)
DOI:10.1136/jmedgenet-2013-101753
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