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IPO8 and developmental delay are reported together in 1 article.
Gene
IPO8
- HGNC
- HGNC:9853
4articles
4mentions
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 60A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
PMID 34010605 | PMCID PMC8206384 | DOI 10.1016/j.ajhg.2021.04.019 · American journal of human genetics · 2021 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IPO8 | “A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Seven individuals from six unrelated families showed a consistent phenotype with early-onset TAA, motor developmental delay, connective tissue findings, and craniofacial dysmorphic features.” | 0.98 | phenotype_alias_lexicon_v2 |