1
|
1
|
2
|
2
|
0
|
0
|
|
Severe combined immunodeficiency, autosomal recessive
|
IL7R
|
AR
|
1
|
1
|
2
|
4
|
1
|
1
|
|
Severe combined immunodeficiency, autosomal recessive
|
RAG2
|
AR
|
2
|
5
|
4
|
5
|
3
|
3
|
|
Severe combined immunodeficiency, X‐linked (SCIDX1)
|
IL2RG
|
XL
|
3
|
4
|
3
|
3
|
2
|
2
|
|
Short stature, idiopathic, X‐linked (ISS)
|
SHOX
|
XL
|
2
|
2
|
2
|
3
|
2
|
2
|
|
Short‐rib thoracic dysplasia 3 with or without polydactyly (SRTD3)
|
DYNC2H1
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Smith–Lemli–Opitz syndrome (SLOS)
|
DHCR7
|
AR
|
18
|
30
|
23
|
32
|
15
|
15
|
|
Sonic hedgehog (SHH)
|
SHH
|
AD
|
1
|
2
|
2
|
3
|
1
|
1
|
|
Sotos syndrome 1 (SOTOS1)
|
NSD1
|
AD
|
2
|
3
|
2
|
2
|
2
|
2
|
|
Spastic paraplegia 3, autosomal dominant (SPG3A)
|
ATL1
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Spastic paraplegia 4, autosomal dominant (SPG4)
|
SPAST
|
AD
|
6
|
10
|
8
|
12
|
7
|
5
|
|
Spherocytosis, type 2 (SPH2)
|
SPTB
|
AD
|
1
|
1
|
2
|
2
|
2
|
1
|
|
Spinal and bulbar muscular atrophy, X‐linked 1 (SMAX1)
|
AR
|
XL
|
3
|
5
|
5
|
6
|
2
|
1
|
|
Spinal muscular atrophy, distal, autosomal recessive, 1 (DSMA1)
|
IGHMBP2
|
AR
|
2
|
3
|
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
|
