Orphanet: Autism spectrum disorder epilepsy arthrogryposis syndrome

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Autism spectrum disorder-epilepsy-arthrogryposis syndrome

Disease definition

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.

ORPHA:370943

Classification level: Disorder

Synonym(s):
- SLC35A3-CDG
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
ICD-11: 5C54.0
OMIM: 615553
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Autism spectrum disorder-epilepsy-arthrogryposis syndrome

ORPHA:370943

A summary on this disease is available in Deutsch (2016) Español (2016) Italiano (2016) Nederlands (2016)

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