Global Variome shared LOVD

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Phenotype #0000180300 Individual ID 00240148 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., skin and hair hypopigmentation, normally pigmented irides, delayed myelination, delayed development, organomegaly, hypopigmentation, no osteopetrosis Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-06-11 17:12:53 +02:00 (CEST) Date last edited N/A

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