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Article

Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.

American journal of medical genetics. Part A - 1 May 2018

Waldrop Megan A, Gumienny Felecia, Boue Daniel, de Los Reyes Emily, Shell Richard, Weiss Robert B, Flanigan Kevin M

Abstract excerpt

Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly. Most individuals are severely affected and have a markedly reduced life span. Here we describe an 8-year-old boy with a history of developmental delay, agenesis of...

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Source

Identifiers

PMID: 29681093
DOI: 10.1002/ajmg.a.38676

Genes

EPG5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.PMID 29681093Read ↗

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First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of <i>EPG5</i> and review of the literatureSemantic proximity Read ↗

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Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.Semantic proximity Read ↗

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A rare mutation in the EPG5 gene causes Vici syndrome.Semantic proximity Read ↗

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