Phenotype #0000268932

Individual ID	00373707
Associated disease	HL
Phenotype details	postlingual nonsyndromic hearing loss age onset 3y–7y males, initially, moderate hearing loss, especially high frequencies, progresses with age, affects all frequencies later; age onset second-third decade female carriers, patients present with severe hearing loss after 10–15 years; vestibular function was normal, and tinnitus was not reported by the affected individuals. No signs of a conductive hearing loss-component (no air-bone gaps) in pure-tone audiometry indicates normal middle-ear function; computed tomography, magnetic resonance imaging and digital volume tomography show normal middle-ear cavity with regular ossicles, normal mastoid, no signs of malformation; regular inner-ear structures had fluid-filled, normally shaped cochlea allowing later treatment by cochlear implantation
Diagnosis/Initial	hearling loss
Inheritance	Familial, X-linked dominant
Diagnosis/Definite	DFNX4
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-18 19:37:17 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD