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EPG5 and congenital cataract are reported together in 1 article.
Gene
EPG5
- HGNC
- HGNC:29331
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Congenital cataract
165articles
165mentions
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 60Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.
PMID 33120733 | PMCID PMC7581136 | DOI 10.1097/MD.0000000000022302 · Medicine · 2020 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EPG5 | “Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital cataract | “RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | neurodevelopmental disorder | “RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing.” | 0.98 | phenotype_alias_lexicon_v2 |