1
1
|
|
Anemia, nonspherocytic hemolytic, due to g6pd deficiency
|
G6PD
|
XL
|
9
|
12
|
12
|
15
|
6
|
6
|
|
Angelman syndrome (AS)
|
UBE3A
|
AD
|
2
|
2
|
2
|
3
|
1
|
1
|
|
Angioedema, hereditary, type i (HAE1)
|
C1NH
|
AD
|
3
|
4
|
3
|
4
|
1
|
1
|
|
Aniridia (AN)
|
PAX6
|
AD
|
4
|
7
|
5
|
6
|
4
|
4
|
|
Aortic valve disease 1 (AOVD1)
|
NOTCH1
|
AD
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Argininosuccinic aciduria
|
ASL
|
AR
|
2
|
3
|
3
|
4
|
1
|
1
|
|
Arterial tortuosity syndrome (ATS)
|
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
