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
|
|
Familial cold autoinflammatory syndrome 1 (FCAS1)
|
NLPR3
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Familial Mediterranean fever (FMF)
|
MEFV
|
AR
|
10
|
18
|
16
|
22
|
11
|
8
|
|
Fanconi anemia, complementation group A (FANCA)
|
FANCA
|
AR
|
2
|
5
|
2
|
3
|
2
|
2
|
|
Fanconi anemia, complementation group C (FANCC)
|
FANCC
|
AR
|
2
|
5
|
4
|
8
|
1
|
1
|
|
Fetal akinesia deformation sequence (FADS)
|
NUP88
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Fetal akinesia deformation sequence (FADS)
|
RAPSN
|
AR
|
1
|
1
|
1
|
2
|
1
|
0
|
|
Fragile‐X mental retardation syndrome
|
