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TSC2 and developmental delay are reported together in 1 article.
Gene
TSC2
- HGNC
- HGNC:12363
15articles
15mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.
PMID 39510572 | PMCID PMC11549607 | DOI 10.15537/smj.2024.45.11.20240444 · Saudi medical journal · 2024 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TSC2 | “A family history of TSC was present in 10 (26%) cases, while 33 (86%) patients had a TSC2 gene mutation.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Common presentations included seizures (79%), rhabdomyoma (26%), and developmental delay (13%).” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “Severity of epilepsy was determined using the early childhood epilepsy severity score (E-CHESS) tool.” | 0.98 | phenotype_alias_lexicon_v2 |