Table 2 The syndromic HL detected in this study
From: Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
Syndrome | Gene | Patient number |
|---|---|---|
Pendred Syndrome | SLC26A4 | 235 |
CHARGE Syndrome | CHD7 | 3 |
Alport Syndrome | COL4A3 | 1 |
Branchio-Oto-Renal Syndrome | EYA1 | 3 |
Barakat Syndrome | GATA3 | 1 |
Perrault Syndrome | LARS2 | 3 |
Waardenburg Syndrome | MITF | 7 |
PAX3 | 3 | |
LEOPARD/Noonan Syndrome | PTPN11 | 5 |
Deafness-Dystonia-Optic Neuronopathy Syndrome | TIMM8A | 1 |
