Global Variome shared LOVD

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Phenotype #0000243000 Individual ID 00324456 Associated disease ? Diagnosis/Initial severe neurological and neurosensory disease Diagnosis/Definite - Phenotype details see paper; died at 33y, ..., severe neurological and neurosensory disease, optic neuropathy Inheritance Familial, autosomal recessive Age/Examination 33y (33 years) 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 2020-12-14 09:04:18 +01:00 (CET) Date last edited N/A

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