TBCE
HGNC:11582 · SaudiVarKB evidence summary derived from retained literature mentions.
4Gene mentions
4Publications
2Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in TBCE publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 3 | 3 |
| intellectual disability | HP:0001249 | 1 | 1 |
| diabetes mellitus | — | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
Linked variants
Variants normalized to TBCE| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.155_166del | c.155_166del | 1 | 1 |
| c.155-166del | c.155-166del | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 2 |
| Not specified | — | 135 | 1 |
Supporting publications
4 records- 2026Comprehensive Analysis of Disease Spectrum and Mortality in Sanjad-Sakati Syndrome: An International Rare Disease Registry Study.The Journal of clinical endocrinology and metabolismPubMed ↗
- 2019Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.Archives de pediatrie : organe officiel de la Societe francaise de pediatriePubMed ↗
- 2015The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.Annals of Saudi medicinePubMed ↗
- 2007Ophthalmic features of hypoparathyroidism-retardation-dysmorphism.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusPubMed ↗