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IFT140 and developmental delay are reported together in 2 articles.
Gene
IFT140
- HGNC
- HGNC:29077
4articles
4mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
retinal dystrophy 3developmental delay 2Bardet-Biedl syndrome 1Leber congenital amaurosis 1renal failure 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
2 records shown · first 60The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
PMID 26359340 | DOI 10.1136/bjophthalmol-2015-307555 · The British journal of ophthalmology · 2016 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IFT140 | “BACKGROUND: Conorenal syndrome is a systemic skeletal ciliopathy characterised by skeletal and renal findings and caused by biallelic mutations in the gene intraflagellar transport 140 Chlamydomonas homologue (IFT140).” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Eight children had developmental delay, two had short stubby fingers, and one had renal disease, but four had no evident extraocular disease, including one aged 18 years who also had two older affected siblings in their twenties who remained non-syndromic and were excelling academically.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “RESULTS: Twelve subjects with confirmed homozygous mutations were identified (11 consanguineous families; 7 boys; assessed at age 10 months to 20 years, average and median age 6.5 and 4 years).” | 0.80 | saudi_context_rules_v1 |
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.
PMID 24698627 | DOI 10.1016/j.jaapos.2013.11.016 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IFT140 | “Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “We report 2 unrelated children who presented with early-onset severe retinal dystrophy in the context of hypotonia, developmental delay, and a noticeably happy demeanor.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Leber congenital amaurosis | “Early-onset severe retinal dystrophy can be isolated (Leber congenital amaurosis) or the first sign of an underlying systemic ciliopathy, such as Bardet-Biedl syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |