Disease & disorder
RNU12-related minor spliceopathy disorder
MONDO:1060223
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.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Investigated drug interventions
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Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.