Global Variome shared LOVD

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Phenotype #0000002841 Individual ID 00004048 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details characteristic facies, hypoplastic terminal phalanges, osteopenia, blind, profound global developmental delay, hypopigmented skin patches and talipes. Bifrontal subdural hygroma on brain MRI 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 13:50:44 +01:00 (CET) Date last edited 2013-11-22 15:55:37 +01:00 (CET)

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