Global Variome shared LOVD

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Phenotype #0000239691 Individual ID 00315946 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details sensorineural hearing loss; 11y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 18,025U/l; primary ovarian failure; failure to thrive Inheritance Familial, autosomal recessive Age/Examination 31y (31 years) Age/Diagnosis 28y 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 2020-10-30 18:31:12 +01:00 (CET) Date last edited N/A

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