MYL3
|
AD
|
1
|
2
|
0
|
0
|
0
|
0
|
|
Carnitine deficiency, systemic primary (CDSP)
|
SLC22A5
|
AR
|
1
|
2
|
1
|
2
|
1
|
1
|
|
Carnitine palmitoyltransferase II deficiency, infantile
|
CPT2
|
AR
|
4
|
7
|
4
|
4
|
2
|
2
|
|
Cerebral arteriopathy, autosomal dominant
|
NOTCH3
|
AD
|
3
|
7
|
6
|
6
|
6
|
4
|
|
Cerebral creatine deficiency syndrome 1 (CCDS1)
|
SLC6A8
|
XL
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Ceroid lipofuscinosis, neuronal 2, late infantile (CLN2)
|
TPP1
|
AR
|
2
|
3
|
2
|
2
|
2
|
1
|
|
Ceroid lipofuscinosis, neuronal, 10 (CLN10)
|
CTSD
|
AR
|
1
|
1
|
2
|
3
|
1
|
1
|
|
Ceroid lipofuscinosis, neuronal, 5 (CLN5)
|
CLN5
|
AR
|
1
|
1
|
2
|
3
|
0
|
0
|
|
Ceroid lipofuscinosis, neuronal, 6 (CLN6)
|
CLN6
|
AR
|
2
|
2
|
1
|
2
|
0
|
0
|
|
Charcot–Marie–Tooth disease, axonal, type 2A2 (CMT2A2)
|
MFN2
|
AD
|
2
|
9
|
6
|
7
|
2
|
2
|
|
Charcot–Marie–Tooth disease, axonal, type 2B (CMT2B)
|
RAB7A
|
AD
|
1
|
1
|
2
|
4
|
2
|
1
|
|
Charcot–Marie–Tooth disease, axonal, type 2E (CMT2E)
|
NEFL
|
AD
|
1
|
4
|
4
|
7
|
1
|
1
|
|
Charcot–Marie–Tooth disease, axonal, type 2F (CMT2F)
|
HSPB1
|
AD
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Charcot–Marie–Tooth disease, demyelinating, type 1A (CMT1A)
|
PMP22
|
AD
|
28
|
56
|
38
|
51
|
25
|
21
|
|
Charcot–Marie–Tooth disease, demyelinating, type 1B (CMT1B)
|
MPZ
|
AD
|
2
|
5
|
2
|
5
|
0
|
0
|
|
Charcot–Marie–Tooth disease, X‐linked, 1 (CMTX1)
|
GJB1
|
XL
|
6
|
9
|
9
|
14
|
5
|
5
|
|
Cholestasis, benign recurrent intrahepatic, 2 (BRIC2)
|
ABCB11
|
AR
|
1
|
2
|
2
|
4
|
1
|
1
|
|
Cholestasis, progressive familial intrahepatic, 3 (PFIC3)
|
ABCB4
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Chondrodysplasia punctata 1, X‐linked recessive (CDPX1)
|
ARSE
|
XL
|
1
|
2
|
2
|
3
|
0
|
0
|
|
Choroideremia (CHM)
|
CHM
|
