2
4
|
1
|
1
|
|
Spinal muscular atrophy, type I (SMA1)
|
SMN1
|
AR
|
102
|
151
|
125
|
199
|
78
|
69
|
|
Spinocerebellar ataxia 1 (SCA1)
|
ATXN1
|
AD
|
4
|
7
|
6
|
8
|
4
|
4
|
|
Spinocerebellar ataxia 2 (SCA2)
|
ATXN2
|
AD
|
7
|
14
|
14
|
27
|
6
|
8
|
|
Spinocerebellar ataxia 6 (SCA6)
|
CACNA1A
|
AD
|
2
|
5
|
2
|
3
|
1
|
1
|
|
Spinocerebellar ataxia 7 (SCA7)
|
ATXN7
|
AD
|
2
|
3
|
3
|
7
|
2
|
1
|
|
Spinocerebellar ataxia 8 (SCA8)
|
ATXN80S
|
AD
|
1
|
1
|
1
|
1
|
1
|
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)
|
|
2
