has material basis in germline mutation in RNU12 autosomal recessive congenital cerebellar ataxia congenital cerebellar ataxia due to RNU12 mutation https://www.malacards.org/card/congenital_cerebellar_ataxia_due_to_rnu12_mutation UMLS:C5567894 MEDGEN:1799317 MONDO:0033717 GARD:0022075 A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume. Orphanet:512260