SLC2A10
|
AR
|
1
|
2
|
2
|
2
|
1
|
1
|
|
Arthrogryposis, distal, type 2a (DA2a)
|
MYH3
|
AD
|
1
|
2
|
2
|
2
|
1
|
1
|
|
Arthrogryposis, distal, type 2b (DA2b)
|
TNNI2
|
AD
|
1
|
2
|
1
|
1
|
0
|
0
|
|
Arthrogryposis, distal, type 2b (DA2b)
|
TNNT3
|
AD
|
1
|
3
|
2
|
3
|
2
|
1
|
|
Arthrogryposis, distal, type 9 (DA9)
|
FBN2
|
AD
|
1
|
2
|
2
|
2
|
2
|
2
|
|
Ataxia‐telangiectasia (AT)
|
ATM
|
AD
|
5
|
12
|
7
|
8
|
6
|
5
|
|
Auriculocondylar syndrome 2 (ARCND2)
|
PLCB4
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Axenfeld–rieger syndrome, type 1 (RIEG1)
|
PITX2
|
AD
|
3
|
13
|
13
|
15
|
5
|
4
|
|
Bardet–Biedl syndrome 10 (BBS10)
|
BBS10
|
AR
|
1
|
2
|
3
|
4
|
1
|
1
|
|
Bardet–Biedl syndrome 2 (BBS2)
|
BBS2
|
AR
|
1
|
1
|
2
|
2
|
2
|
1
|
|
Bardet–Biedl syndrome 4 (BBS4)
|
BBS4
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Bartter syndrome, type 3 (BARTS3)
|
CLCNKB
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Basal cell nevus syndrome (BCNS) (Gorlin)
|
PTCH1
|
AD
|
6
|
7
|
6
|
10
|
4
|
4
|
|
Benign chronic pemphigus (BCPM)
|
ATP2C1
|
AD
|
1
|
1
|
1
|
1
|
1
|
0
|
|
Beta‐ureidopropionase deficiency (UPB1D)
|
UPB1
|
AR
|
1
|
1
|
2
|
2
|
2
|
1
|
|
Biotinidase deficiency
|
BTD
|
AR
|
3
|
5
|
2
|
3
|
2
|
2
|
|
Birt–Hogg–Dube syndrome (BHD)
|
FLCN
|
AD
|
1
|
2
|
1
|
1
|
1
|
1
|
|
Bleeding disorder, platelet‐type, 16 (BDPLT16)
|
ITGB3
|
AD
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Blepharophimosis, ptosis, and epicanthus inversus (BPES)
|
FOXL2
|
AD
|
3
|
7
|
5
|
7
|
3
|
3
|
|
Blood group – Kell–Cellano system
|
KEL
|
AR
|
14
|
32
|
19
|
32
|
|
