Global Variome shared LOVD

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Phenotype #0000294313 Individual ID 00401294 Associated disease ? Diagnosis/Initial multisystem dysfunction Diagnosis/Definite - Phenotype details see paper; ..., primary ovarian failure, intellectual disability, sensorineural hearing loss, kyphosis, significant speech delay Inheritance Familial, autosomal recessive Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 00y15m Phenotype/Onset sensorineural hearing loss 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 2022-01-31 09:26:22 +01:00 (CET) Date last edited N/A

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