cerebellar dysfunction with variable cognitive and behavioral abnormalities
MONDO:0013886
Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
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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.
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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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cerebellar dysfunction with variable cognitive and behavioral abnormalities
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.