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Vici syndrome
rareA 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.
- Identifiers
- MONDO:0009452 OMIM:242840Orphanet:1493
- Causal genes
- EPG5
- Part of
- Autosomal recessive diseaseImmune system disorderMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- absent corpus callosum cataract immunodeficiency · absent corpus callosum-cataract-immunodeficiency syndrome · corpus callosum agenesis-cataract-immunodeficiency syndrome · Dionisi Vici Sabetta Gambarara syndrome · Dionisi-Vici-Sabetta-Gambarara syndrome
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