Taubheit, syndromal

Alport

Basis-Diagnostik

COL4A3, COL4A4, COL4A5, MYH9

Alstrom

Basis-Diagnostik

ALMS1

Bartter Typ 4A

Basis-Diagnostik

BSND

BOR

Basis-Diagnostik

EYA1, SIX1, SIX5

BWS with deafness

Basis-Diagnostik

CDKN1C

CHARGE

Basis-Diagnostik

CHD7, SEMA3E

CMDD

Basis-Diagnostik

ANKH

Deafness, X-linked

Basis-Diagnostik

COL4A6

Jervell & Lange-Nielsen

Basis-Diagnostik

KCNE1, KCNQ1

Nephropathie mit Diabetes

Basis-Diagnostik

CD151

Norrie

Basis-Diagnostik

NDP

Pendred

Basis-Diagnostik

FOXI1, KCNJ10, SLC26A4

Perrault Syndrom

Basis-Diagnostik

CLPP, HARS, HSD17B4, LARS2

PHARC

Basis-Diagnostik

ABHD12

RTA mit Taubheit

Basis-Diagnostik

ATP6V1B1

SANDD

Basis-Diagnostik

CACNA1D

Stickler

Basis-Diagnostik

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2

TPBS

Basis-Diagnostik

CHSY1

Treacher Collins

Basis-Diagnostik

POLR1C, POLR1D, TCOF1

TRMA

Basis-Diagnostik

SLC19A2

Usher Syndrom

Basis-Diagnostik

ADGRV1 (GPR98), CDH23, IB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1G, USH2A, WHRN

Waardenburg

Basis-Diagnostik

EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

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