Global Variome shared LOVD

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Phenotype #0000319223 Individual ID 00428319 Associated disease deafness Phenotype details bilaterally absent cochleae, enlarged vestibules, dysplastic SCCs; profound bilateral sensorineural hearing impairment, bilateral cochlear aplasia; bilateral dysplastic vestibule and semicircular canals; bilateral cochlear nerve aplasia Diagnosis/Initial non-syndromic deafness Inheritance Isolated (sporadic) Diagnosis/Definite DFNA80 Age/Examination - 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 2022-12-31 12:40:39 +01:00 (CET) Date last edited 2023-01-01 13:11:28 +01:00 (CET)

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