Global Variome shared LOVD

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Phenotype #0000222983 Individual ID 00289370 Associated disease DFNA20;DFNA26 Phenotype details Before they were 15 years old, the patients had already shown gently downsloping audiograms. By ages 15 to 20 and 25 to 40 years, hearing loss had become severe to profound at 8 kHz and 1 to 4 kHz, respectively. The thresholds at 0.25 to 0.5 kHz showed more gradual progression at an average increase of about 1.5 to 2 dB/y. Diagnosis/Initial Deafness Inheritance Familial, autosomal dominant Diagnosis/Definite Deafness Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Camille Cenni Database submission license No license selected Created by Camille Cenni Date created 2020-03-05 17:41:11 +01:00 (CET) Date last edited N/A

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