Vici syndrome

Summary: Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing ...1

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Symptoms of Vici syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Names and Terminology

Other Names: Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum; Absent corpus callosum cataract immunodeficiency; Dionisi Vici Sabetta Gambarara syndrome ...Source: GARD ...2

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 448/ vici-syndrome
  2. ibid.

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