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Article

Vici syndrome: a review.

Orphanet journal of rare diseases - 29 Feb 2016

Byrne Susan, Dionisi-Vici Carlo, Smith Luke, Gautel Mathias, Jungbluth Heinz

Abstract excerpt

Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microcephaly are almost universal, suggesting an evolving (neuro) degenerative component. In most patients...

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Source

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Identifiers

PMID: 26927810
DOI: 10.1186/s13023-016-0399-x
PMCID: PMC4772338

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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