Global Variome shared LOVD

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Phenotype #0000078544 Individual ID 00100322 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., congenital sensorineural hearing loss, premature graying, blue irides,fair skin, no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata Inheritance Familial, autosomal dominant 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 2017-02-10 19:37:57 +01:00 (CET) Date last edited N/A

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