has material basis in germline mutation in disease has feature SLC35A3 Autism autism spectrum disorder - epilepsy - arthrogryposis syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/arthrogryposis_impaired_intellectual_development_and_seizures MONDO:0014248 Orphanet:370943 arthrogryposis, intellectual disability, and seizures OMIM:615553 AMRS 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). MEDGEN:816240 SLC35A3-CDG arthrogryposis, mental retardation, and seizures arthrogryposis, impaired intellectual development, and seizures GARD:0017604 UMLS:C3809910 developmental anomaly of metabolic origin disorder of protein N-glycosylation distal arthrogryposis