Table 6c. [Select Common Causes of X-Linked Syndromic Hearing Loss]. - GeneReviews®

Gene(s)	Syndrome	Hearing Loss	Comment
COL4A5	Alport syndrome ¹	SNHL	Typically after age 10 yrs	Varying severity, progressive
TIMM8A	Deafness-dystonia-optic neuronopathy syndrome (Mohr-Tranebjaerg syndrome)	SNHL	Early childhood	Progressive, pre- or postlingual	Nonsyndromic HL mimic: HL is always presenting manifestation. Slowly progressive dystonia or ataxia develops in teens, & slowly progressive decreased visual acuity from optic atrophy develops at age ~20 yrs. Dementia develops at age ~40 yrs.

Gene(s)

Syndrome

Hearing Loss

Comment

Type

Onset

Severity

COL4A5

Alport syndrome ¹

SNHL

Typically after age 10 yrs

Varying severity, progressive

TIMM8A

Deafness-dystonia-optic neuronopathy syndrome (Mohr-Tranebjaerg syndrome)

SNHL

Early childhood

Progressive, pre- or postlingual

Nonsyndromic HL mimic: HL is always presenting manifestation. Slowly progressive dystonia or ataxia develops in teens, & slowly progressive decreased visual acuity from optic atrophy develops at age ~20 yrs. Dementia develops at age ~40 yrs.

From: Genetic Hearing Loss Overview

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