Global Variome shared LOVD

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Phenotype #0000319222 Individual ID 00428318 Associated disease deafness Phenotype details profound bilateral sensorineural hearing impairment, right bilateral cochlear aplasia, left unilateral incomplete partition type I; bilateral dysplastic vestibule and semicircular canals; bilateral cochlear nerve aplasia; absent or malformed cochleae, absent eighth cranial nerves Diagnosis/Initial nonsyndromic congenital 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 12:30:28 +01:00 (CET) Date last edited 2023-01-01 13:13:22 +01:00 (CET)

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