AR
|
1
|
1
|
1
|
2
|
0
|
0
|
|
Thrombocytopenia‐absent radius syndrome (TAR)
|
RBM8A
|
AR
|
4
|
6
|
5
|
7
|
4
|
4
|
|
Treacher Collins syndrome 1 (TCS1)
|
TCOF1
|
AD
|
6
|
8
|
8
|
14
|
7
|
7
|
|
Treacher Collins syndrome 2 (TCS2)
|
POLR1D
|
AD
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Tuberous sclerosis 1 (TSC1)
|
TSC1
|
AD
|
20
|
30
|
27
|
52
|
16
|
14
|
|
Tuberous sclerosis 2 (TSC2)
|
TSC2
|
AD
|
8
|
14
|
10
|
14
|
5
|
4
|
|
Tyrosinemia, type I (TYRSN1)
|
FAH
|
AR
|
1
|
7
|
7
|
13
|
5
|
3
|
|
Ulnar–Mammary syndrome (UMS)
|
TBX3
|
AD
|
1
|
3
|
3
|
4
|
1
|
1
|
|
Usher syndrome, type I (USH1)
|
MYO7A
|
AD
|
1
|
3
|
2
|
2
|
1
|
1
|
|
Usher syndrome, type IF (USH1F)
|
PCDH15
|
AR
|
2
|
4
|
4
|
6
|
4
|
2
|
|
Usher syndrome, type IIA (USH2A)
|
USH2A
|
AR
|
3
|
4
|
5
|
6
|
2
|
2
|
|
Usher syndrome, type IIC (USH2C)
|
ADGRV1
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Usher syndrome, type IIC (USH2C)
|
GPR98
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Van der Woude syndrome 1 (VWS1)
|
IRF6
|
AD
|
3
|
3
|
3
|
3
|
3
|
3
|
|
Von Hippel–Lindau syndrome (VHL)
|
VHL
|
AD
|
19
|
25
|
21
|
30
|
15
|
14
|
|
Waardenburg syndrome, type 2A (WS2A)
|
MITF
|
AD
|
2
|
6
|
6
|
6
|
4
|
4
|
|
Wilson disease
|
ATP7B
|
AR
|
3
|
3
|
3
|
5
|
3
|
2
|
|
Wiskott–Aldrich syndrome (WAS)
|
WAS
|
XL
|
6
|
15
|
13
|
20
|
9
|
8
|
|
Wolfram syndrome 1 (WFS1)
|
WFS1
|
AR
|
1
|
2
|
1
|
1
|
1
|
1
|
|
Xeroderma pigmentosum, complementation group g (XPG)
|
ERCC5
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
TOTAL
|
