Global Variome shared LOVD

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Phenotype #0000142766 Individual ID 00016189 Associated disease DFNA1 Phenotype details nonsyndromic, bilateral, slowly progressive hearing impairment, starting mildly in high frequencies; age onset late 20s, hearing impairment gradually progressed to all frequencies later, eventually reached severe-to-profound in seventh decade; absent or abnormal otoacoustic emission, no evidence of vestibular dysfunction, no inner ear malformation observed by CT scanning Diagnosis/Initial hearing impairment Inheritance Familial, autosomal dominant Diagnosis/Definite DFNA-65 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2018-09-05 21:22:34 +02:00 (CEST) Date last edited N/A

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