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Vici syndrome

Orpha number ORPHA1493
Synonym(s) Corpus callosum agenesis - cataract - immunodeficiency
Dionisi-Vici-Sabetta-Gambarara syndrome
Prevalence <1 / 1 000 000
  • Autosomal recessive
Age of onset Neonatal/infancy
  • Q87.8
MeSH -
MedDRA -


Vici syndrome (VICIS) is a very rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, hypotonia, developmental delay, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

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Detailed information

Guidance for genetic testing
  • EN (2013,pdf)
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