RNU12-related minor spliceopathy disorder

Definition

Any hereditary disease caused by a variation in the RNU12 gene, resulting in abnormal splicing of pre-mRNA via the minor spliceosome. The phenotypic spectrum includes craniosynostosis-anal anomalies-porokeratosis (CDAGS) syndrome and autosomal recessive spinocerebellar ataxia 33.

Also known as RNU12-related minor spliceopathy disorder — per MONDO