/Vici syndrome

Vici syndrome

Rare Disease

MONDO:0009452

Also Known As

Dionisi-Vici-Sabetta-Gambarara syndromeVici syndromeabsent corpus callosum-cataract-immunodeficiency syndromecorpus callosum agenesis-cataract-immunodeficiency syndromeimmunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosumDionisi Vici Sabetta Gambarara syndromeVICISabsent corpus callosum cataract immunodeficiencyimmunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosumimmunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum

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.

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Associated Genes

EPG5 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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