1
|
Spondyloepiphyseal dysplasia tarda, X‐linked (SEDT)
|
TRAPPC2
|
AD
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Stargardt disease 1 (STGD1)
|
ABCA4
|
AR
|
4
|
10
|
5
|
6
|
2
|
2
|
|
Stickler syndrome, type I (STL1)
|
Col2A1
|
AD
|
4
|
4
|
3
|
5
|
2
|
2
|
|
Stickler syndrome, type II (STL2)
|
COL11A1
|
AD
|
2
|
7
|
6
|
15
|
1
|
1
|
|
Stickler syndrome, type II (STL2)
|
COL18A1
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Succinic semialdehyde dehydrogenase deficiency (SSADHD)
|
ALDH5A1
|
AR
|
3
|
4
|
4
|
9
|
2
|
2
|
|
Sulfocysteinuria
|
SUOX
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Supranuclear palsy, progressive, 1 (PSNP1)
|
MAPT
|
AD
|
2
|
3
|
3
|
5
|
1
|
1
|
|
Surfactant metabolism dysfunction, pulmonary, 3 (SMDP3)
|
ABCA3
|
AR
|
1
|
2
|
2
|
4
|
1
|
1
|
|
Symphalangism, proximal (SYM1)
|
NOG
|
AD
|
1
|
3
|
3
|
7
|
2
|
2
|
|
Tay–Sachs disease (TSD)
|
HEXA
|
AR
|
25
|
46
|
29
|
52
|
19
|
17
|
|
Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber (HHT)
|
ENG
|
AD
|
4
|
11
|
6
|
7
|
3
|
3
|
|
Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)
|
ACVRL1
|
AD
|
4
|
8
|
7
|
8
|
4
|
4
|
|
Temtamy syndrome (TEMTYS)
|
C12orf57
|
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
|
