• Autosomal recessive spinocerebellar ataxia-20 is a multisystem disorder characterized by severe intellectual disability, absent to severe speech delay, behavioural abnormalities, seizures, cerebellar ataxia and hypotonia with poor deep tendon reflexes and coarse facial features.
• Less than 35 cases have been reported worldwide.
• It is caused by biallelic variants in the SNX14 gene
SNX14