Global Variome shared LOVD

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Phenotype #0000002844 Individual ID 00004051 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details characteristic facies, hypoplastic terminal phalanges, osteopenia, albinoid fundus, markedly impaired retinal function, recurrent infections, PDA, persistent anemia (Hb 8.3 g/dl) with anisopoikilocytosis. MRI showed increase white matter signal and hypogenesis of corpus callosum Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Fowzan Alkuraya Database submission license No license selected Created by Fowzan Alkuraya Date created 2013-11-21 19:18:22 +01:00 (CET) Date last edited 2013-11-22 16:01:15 +01:00 (CET)

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