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