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).
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
MONDO:0019942
distal arthrogryposis
is_a
AMRS
related
SLC35A3-CDG
exact
arthrogryposis, impaired intellectual development, and seizures
exact
arthrogryposis, intellectual disability, and seizures
related
arthrogryposis, mental retardation, and seizures
related
SPCC1795.03