RNU12-related minor spliceopathy disorder
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.
MONDO:0003847
hereditary disease
is_a
RNU12-related minor spliceopathy disorder
exact