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PedAM

Pediatric Disease Annotations & Medicines




Disease cataract
Phenotype C0078918|oculocutaneous albinism
Sentences 1
PubMedID- 23044023 The phenotypically heterogeneous, autosomal recessive vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, cataract, cardiomyopathy, cleft lip, and immunodeficiency.

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