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