SNX14 and Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome: Recent studies reported that autosomal recessive spinocerebellar ataxia 20 (SCAR20) is caused by homozygous or compound heterozygous variants in SNX14. SCAR20 is characterized by early-onset cerebellar atrophy, intellectual developmental disorder, ataxia, autism, coarsened facial features, frequent hearing loss, and skeletal abnormalities.