Global Variome shared LOVD

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Phenotype #0000346605 Individual ID 00458169 Associated disease HL Phenotype details see paper; ..., childhood progressive hearing loss; postlingual progressive auditory neuropathy spectrum disorder, auditory neuropathy, optic atrophy; childhood visual impairment Diagnosis/Initial auditory neuropathy spectrum disorder Inheritance Familial, autosomal recessive Diagnosis/Definite MMDS9B Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-12-03 19:03:20 +01:00 (CET) Date last edited 2024-12-03 19:07:41 +01:00 (CET)

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