|
1
|
(HPO:0200037)
|
Skin vesicle |
Occasional [Orphanet]
|
|
19924139
|
IBIS
|
102 / 7739
|
|
2
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
11063735
|
IBIS
|
232 / 7739
|
|
3
|
(HPO:0002224)
|
Woolly hair |
Very frequent [Orphanet]
|
|
11063735
|
IBIS
|
26 / 7739
|
|
4
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
11063735
|
IBIS
|
216 / 7739
|
|
5
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
11063735
|
IBIS
|
40 / 7739
|
|
6
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
20940358
|
IBIS
|
141 / 7739
|
|
7
|
(HPO:0004756)
|
Ventricular tachycardia |
rare [HPO:skoehler]
|
|
9738775
|
IBIS
|
55 / 7739
|
|
8
|
(HPO:0007475)
|
Congenital bullous ichthyosiform erythroderma |
|
|
9738775
|
IBIS
|
4 / 7739
|
|
9
|
(HPO:0006670)
|
Impaired myocardial contractility |
|
|
9738775
|
IBIS
|
9 / 7739
|
|
10
|
(HPO:0001685)
|
Myocardial fibrosis |
|
|
23137101
|
IBIS
|
30 / 7739
|
|
11
|
(HPO:0001808)
|
Fragile nails |
|
|
9738775
|
IBIS
|
21 / 7739
|
|
12
|
(HPO:0001699)
|
Sudden death |
|
|
9738775
|
IBIS
|
34 / 7739
|
|
13
|
(MedDRA:10062311)
|
Electrocardiogram low voltage |
|
|
9738775
|
IBIS
|
1 / 7739
|
|
14
|
(HPO:0005150)
|
Abnormal atrioventricular conduction |
|
|
9738775
|
IBIS
|
16 / 7739
|
|
15
|
(MedDRA:10023369)
|
Keratosis follicular |
|
|
9738775
|
IBIS
|
5 / 7739
|
|
16
|
(OMIM)
|
Epidermal spongiosis |
|
|
9738775
|
IBIS
|
2 / 7739
|
|
17
|
(OMIM)
|
Dyskeratosis |
|
|
9738775
|
IBIS
|
2 / 7739
|
|
18
|
(OMIM)
|
Vacuolized keratinocytes |
|
|
20940358
|
IBIS
|
2 / 7739
|
|
19
|
(HPO:0100759)
|
Clubbing of fingers |
|
|
9738775
|
IBIS
|
40 / 7739
|
|
20
|
(HPO:0012663)
|
Mildly reduced ejection fraction |
|
|
23137101
|
IBIS
|
4 / 7739
|
|
21
|
(HPO:0003115)
|
Abnormal EKG |
|
|
11063735
|
IBIS
|
44 / 7739
|