RB1
|
AD
|
17
|
31
|
26
|
43
|
14
|
13
|
|
Retinoschisis 1, X‐linked, juvenile (RS1)
|
RS1
|
XL
|
1
|
2
|
1
|
2
|
1
|
0
|
|
Rett syndrome (RTT)
|
MECP2
|
XL
|
3
|
5
|
4
|
4
|
3
|
1
|
|
Rhabdoid tumor predisposition syndrome 1 (RTPS1)
|
SMARCB1
|
AD
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Rhesus blood group, D antigen (RHD)
|
RHD
|
AD
|
7
|
9
|
9
|
16
|
6
|
6
|
|
Sandhoff disease
|
HEXB
|
AR
|
4
|
6
|
5
|
8
|
4
|
4
|
|
Seckel syndrome 1 (SCKL1)
|
ATR
|
AR
|
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
|
|
