(Q7925271)
English
Vici syndrome
autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation, with material basis in mutation in the EPG5 gene on chromosome 18q12.3.
- immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
- VICI SYNDROME; VICIS
- Corpus callosum agenesis-cataract-immunodeficiency syndrome
- Dionisi Vici Sabetta Gambarara syndrome
- Absent corpus callosum cataract immunodeficiency
- Absent corpus callosum-cataract-immunodeficiency syndrome
- VICIS
- Dionisi-Vici-Sabetta-Gambarara syndrome
- Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum
- VICI SYNDROME
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C138174
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Identifiers
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Sitelinks
Wikipedia(2 entries)
- enwiki Vici syndrome
- trwiki Vici sendromu