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TTN
|
AD
|
2
|
2
|
3
|
3
|
1
|
1
|
Cardiomyopathy, dilated, 1S (CMD1S)
|
MYH7
|
AD
|
3
|
6
|
4
|
4
|
2
|
2
|
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA)
|
DSP
|
AD
|
2
|
3
|
2
|
3
|
2
|
1
|
Cardiomyopathy, familial hypertrophic, 2 (CMH2)
|
TNNT2
|
AD
|
1
|
2
|
1
|
1
|
1
|
0
|
Cardiomyopathy, familial hypertrophic, 4 (CMH4)
|
MYBPC3
|
AD
|
14
|
22
|
16
|
23
|
11
|
9
|
Cardiomyopathy, familial hypertrophic, 7 (CMH7)
|
TNNI3
|
AD
|
1
|
1
|
1
|
1
|
0
|
0
|
Cardiomyopathy, familial hypertrophic, 8 (CMH8)
|
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
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