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FGFR3 and developmental delay are reported together in 1 article.
Gene
FGFR3
- HGNC
- HGNC:3690
24articles
24mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
skeletal dysplasia 4multiple myeloma 2COVID-19 1breast cancer 1congenital cataract 1developmental delay 1hearing loss 1primary congenital glaucoma 1
Reported variants (articles · ClinVar status)
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 60Clinical and genetic profile of achondroplasia: a descriptive study from a tertiary care center in Saudi Arabia.
PMID 42157165 | PMCID PMC13352903 | DOI 10.1186/s12887-026-06937-w · BMC pediatrics · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FGFR3 | “BACKGROUND: Achondroplasia (ACH) results from a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, representing the primary cause of short stature in humans.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Developmental delay was observed in 54.5%, while neurological symptoms and hearing loss were each noted in 42.4%.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hearing loss | “Developmental delay was observed in 54.5%, while neurological symptoms and hearing loss were each noted in 42.4%.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Riyadh | “Clinical and genetic profile of achondroplasia: a descriptive study from a tertiary care center in Saudi Arabia. This study aims to describe the clinical features, complications, and management outcomes of Saudi patients with achondroplasia. METHODS: This retrospective study included achondroplasia cases followed at the endocrinology clinic at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, from (2015-2025). Clinical suspicion of obstructive sleep apnea (OSA) was identified in 17/33 patients (51.5%), with 41.2% (7/17) requiring surgical intervention. CONCLUSION: This study provides the largest single-center characterization of achondroplasia in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |