4
|
3
|
2
|
|
Ehlers–Danlos syndrome, type IV, autosomal dominant
|
COL3A1
|
AD
|
4
|
6
|
4
|
7
|
4
|
3
|
|
Ehlers–Danlos syndrome, type VI (EDS6)
|
PLOD1
|
AR
|
1
|
1
|
2
|
3
|
0
|
0
|
|
Emery–Dreifuss muscular dystrophy 1, X‐linked (EDMD1)
|
EMD
|
XL
|
3
|
4
|
4
|
7
|
3
|
3
|
|
Epidermolysis bullosa dystrophica, autosomal dominant (DDEB)
|
COL7A1
|
AR
|
8
|
9
|
8
|
13
|
4
|
4
|
|
Epidermolysis bullosa simplex with pyloric atresia (EBSPA)
|
PLEC1
|
AR
|
1
|
2
|
1
|
3
|
1
|
1
|
|
Epidermolysis bullosa simplex, dowling‐meara type (EBSDM)
|
KRT5
|
AD
|
1
|
2
|
1
|
2
|
1
|
1
|
|
Epidermolysis bullosa, junctional, Herlitz type
|
LAMA3
|
AR
|
4
|
9
|
7
|
13
|
7
|
7
|
|
Epidermolysis bullosa, junctional, non‐herlitz type
|
LAMB3
|
AR
|
5
|
6
|
5
|
9
|
2
|
2
|
|
Epidermolytic hyperkeratosis (EHK)
|
KRT10
|
AD
|
2
|
3
|
2
|
2
|
2
|
2
|
|
Epileptic encephalopathy, early infantile, 2 (EIEE2)
|
CDKL5
|
XL
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Epileptic encephalopathy, early infantile, 3 (EIEE3)
|
SLC25A22
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Epileptic encephalopathy, early infantile, 5 (EIEE5)
|
SPTAN1
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Epiphyseal dysplasia, multiple, 1 (EDM1)
|
COMP
|
AD
|
3
|
4
|
2
|
2
|
1
|
1
|
|
Exostoses, multiple, type I
|
EXT1
|
AD
|
11
|
21
|
17
|
29
|
12
|
10
|
|
Exostoses, multiple, type II
|
EXT2
|
AD
|
3
|
8
|
6
|
10
|
3
|
3
|
|
Fabry disease
|
GLA
|
XL
|
12
|
19
|
14
|
22
|
9
|
7
|
|
Facioscapulohumeral muscular dystrophy 1 (FSHD1)
|
FRG1
|
AD
|
25
|
51
|
42
|
71
|
23
|
20
|
|
Factor VII deficiency
|
F7
|
AR
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Familial adenomatous polyposis 1 (FAP1)
|
APC
|
AD
|
23
|
44
|
36
|
57
|
17
|
15
|
