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EPG5 and developmental delay are reported together in 2 articles.
Gene
EPG5
- HGNC
- HGNC:29331
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
2 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 | 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 |
| phenotype | cardiomyopathy | “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 |
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
PMID 26917586 | PMCID PMC4766378 | DOI 10.1093/brain/awv393 · Brain : a journal of neurology · 2016 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EPG5 | “Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive).” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive).” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | neurodevelopmental disorder | “EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.” | 0.93 | phenotype_alias_lexicon_v2 |