Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum (or absent corpus callosum cataract immunodeficiency), is a rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency and recurrent severe infections. To date, about 50 cases have been reported.
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Value |
| dbo:abstract |
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum (or absent corpus callosum cataract immunodeficiency), is a rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency and recurrent severe infections. To date, about 50 cases have been reported. (en) |
| dbo:alias |
Dionisi–Vici–Sabetta–Gambarara syndrome (en) |
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Q87.8 |
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C535566 |
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wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
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dbr:Cardiomyopathy dbr:Cataract dbr:Nystagmus dbr:Genetic_carrier dbc:Autosomal_recessive_disorders dbr:Agenesis_of_the_corpus_callosum dbr:Chédiak–Higashi_syndrome dbr:Psychomotor_retardation dbc:Congenital_disorders dbc:Rare_diseases dbr:Griscelli_syndrome dbr:Ataxia–telangiectasia dbc:Syndromes dbc:Genetic_disorders_with_OMIM_but_no_gene dbr:Albinism dbr:DiGeorge_syndrome dbr:Dominance_(genetics) dbr:Autosome dbr:Infection dbr:Seizure dbr:Marinesco–Sjögren_syndrome dbr:Congenital_disorder dbr:Immunodeficiency dbr:Photophobia dbr:File:Autosomal_recessive_-_en.svg |
| dbp:caption |
Photograph of a child with Vici Syndrome. (en) |
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Q87.8 (en) |
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Vici syndrome (en) |
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Dionisi–Vici–Sabetta–Gambarara syndrome (en) |
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dbr:Disorder |
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| rdfs:comment |
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum (or absent corpus callosum cataract immunodeficiency), is a rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency and recurrent severe infections. To date, about 50 cases have been reported. (en) |
| rdfs:label |
Vici syndrome (en) |
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freebase:Vici syndrome yago-res:Vici syndrome wikidata:Vici syndrome dbpedia-tr:Vici syndrome https://global.dbpedia.org/id/4x4dV |
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wikipedia-en:Vici_syndrome?oldid=1090157380&ns=0 |
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wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg |
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wikipedia-en:Vici_syndrome |
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dbr:List_of_primary_immunodeficiencies dbr:Agenesis_of_the_corpus_callosum dbr:List_of_syndromes dbr:Immunodeficiency_with_cleft_lip,_catar...gmentation_and_absent_corpus_callosum dbr:Immunodeficiency_with_cleft_palate,_ca...gmentation_and_absent_corpus_callosum |
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