Disease & disorder
cerebellar-facial-dental syndrome
MONDO:0014529
A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.
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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MONDO disease family
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Recruiting studies by city
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Trial status
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Trial phase
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Study start year
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Investigated drug interventions
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Background context
cerebellar-facial-dental syndrome
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.