THG1L-related disorder
MONDO:1060243Mondo
Findings
No curated finding names THG1L-related disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:1060243), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of