Vici syndrome
Findings
No curated finding names Vici syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
Definition from the Mondo Disease Ontology (MONDO:0009452), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset
HPO, annotations 2026-09-02
Features
67 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of corpus callosumHPOHP:0001274
- 27 of 27 reported patients
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 27 of 27 reported patients
- Very frequent (80% to 99% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- 27 of 27 reported patients
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- 26 of 27 reported patients
- CataractHPOHP:0000518
Show the remaining 55
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Ureteral atresiaHPOHP:0005999
- Very frequent (80% to 99% of cases)
- Fundus hypopigmentationHPOHP:0007894
- 18 of 27 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EPG5HGNC:29331
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: Vici syndrome
- Also called
- absent corpus callosum-cataract-immunodeficiency syndromecorpus callosum agenesis-cataract-immunodeficiency syndromeDionisi-Vici-Sabetta-Gambarara syndromeimmunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum