1
|
1
|
1
|
1
|
1
|
|
Dihydrolipoamide dehydrogenase deficiency (DLDD)
|
DLD
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Donnai–Barrow syndrome
|
LRP2
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Dyskeratosis congenita, autosomal dominant 3 (DKCA3)
|
TINF2
|
AD
|
1
|
2
|
2
|
3
|
1
|
1
|
|
Dyskeratosis congenita, autosomal dominant 2 (DKCA2)
|
TERT
|
AD
|
1
|
3
|
1
|
1
|
0
|
0
|
|
Dyskeratosis congenita, autosomal recessive 5 (DKCB5)
|
RTEL1
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Dyskeratosis congenita, X‐linked (DKCX)
|
DKC1
|
XL
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Dyskinesia, seizures, and intellectual developmental disorder (DYSEIDD)
|
DEAF1
|
AR
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Dystonia 1, torsion, autosomal dominant (DYT1)
|
TOR1A
|
AD
|
16
|
36
|
35
|
63
|
18
|
18
|
|
Dystonia 28, childhood‐onset (DYT28)
|
KMT2B
|
AD
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Dystonia 3, torsion, X‐linked (DYT3)
|
TAF1
|
XL
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
|
EDAR
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Ectodermal dysplasia, hypohidrotic, X‐linked (XHED)
|
EDA
|
XL
|
6
|
8
|
8
|
10
|
4
|
4
|
|
Ehlers–Danlos syndrome, classic type
|
COL5A1
|
AD
|
2
|
4
|
3
|
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
|
|
