Disease & disorder
THG1L-related disorder
MONDO:1060243
Any hereditary disease in which the cause of the disease is a biallelic variation in the THG1L gene, encompassing a phenotypic spectrum that ranges from mild cerebellar ataxia with developmental delay to severe epileptic encephalopathy.
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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Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.