Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)
Pathogenic variants in the SLC35A3 gene cause a syndrome characterized by arthrogryposis (congenital joint contractures), intellectual disability, autism spectrum disorder, and epilepsy. Patients also have microcephaly, small jaws, seizures and muscle hypotonia, as well as developmental delay. To date, the disease has only been reported among individuals of Ashkenazi Jewish descent. At the moment, too few patients have been reported to determine a genotype-phenotype correlation.
For information about carrier frequency and residual risk, please see the residual risk table.