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ProteinsTransporters and enzymes
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AnatomyTissues, by what is expressed there
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Reference

Evidence

Compounds
Outcomes
Proteins
Interactions
Papers
Articles

Chemistry

Reactions
Reach

Reference layer

Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

Atlas Graph Twin Access

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Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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A reference for what the literature reports. Not medical advice.

Disease

THG1L-related epileptic encephalopathy

MONDO:1060244Mondo

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Findings

No curated finding names THG1L-related epileptic encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any genetic developmental and epileptic encephalopathy in which the cause of the disease is a biallelic variation in the THG1L gene, characterized by profound developmental delay, microcephaly, intractable epilepsy, and cerebellar hypoplasia.

Definition from the Mondo Disease Ontology (MONDO:1060244), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: autosomal recessive disease
genetic developmental and epileptic encephalopathy
THG1L-related disorder