CEBALID syndrome: genes and variants
CEBALID syndrome is linked to 1 analyzed protein (MTOR). 6 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to CEBALID syndrome
MTOR: Serine/threonine-protein kinase mTOR
It integrates nutrient, energy, oxygen, and growth-factor signals to control protein synthesis, autophagy, metabolism, and cell growth. Activating germline or mosaic variants can cause developmental brain overgrowth and epilepsy, while persistent pathway activation is common in cancer.
6 disease-causing and 0 uncertain variants in MTOR are linked to CEBALID syndrome.
Where CEBALID syndrome variants cluster
- MTOR FAT (positions 1382–1982): 3 of 6 disease-causing changes, 2.1× more than its size predicts.
Known disease-causing variants in CEBALID syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MTOR T1977I | 1977 | FAT | Disease-causing (★★) |
| MTOR E2419K | 2419 | PI3K/PI4K catalytic | Disease-causing (★★) |
| MTOR I2501F | 2501 | Disease-causing (★) | |
| MTOR K1452N | 1452 | FAT | Disease-causing |
| MTOR A1519V | 1519 | FAT | Disease-causing |
| MTOR I2017T | 2017 | Sufficient for interaction with the FKBP1A/rapam | Disease-causing |
Same protein, different disease
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome is also caused by MTOR variants; they fall mostly in different places as the CEBALID syndrome variants (13 disease-causing).
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes is also caused by MTOR variants; they fall mostly in different places as the CEBALID syndrome variants (12 disease-causing).
- Isolated focal cortical dysplasia type II is also caused by MTOR variants; they fall mostly in different places as the CEBALID syndrome variants (9 disease-causing).
Diseases related to CEBALID syndrome
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, also linked to MTOR
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, also linked to MTOR
- Isolated focal cortical dysplasia type II, also linked to MTOR
Frequently asked questions
Which genes are linked to CEBALID syndrome?
In CATVariant, CEBALID syndrome is linked to 1 analyzed protein: MTOR (Serine/threonine-protein kinase mTOR).
How many genetic variants are linked to CEBALID syndrome?
13 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in CEBALID syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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