1
|
(HPO:0002224)
|
Woolly hair |
Very frequent [IBIS]
Very frequent [Orphanet]
Very frequent [IBIS]
|
100% (n=26)
|
11691526
|
IBIS
|
26 / 7739
|
2
|
(HPO:0000982)
|
Palmoplantar keratoderma |
Very frequent [IBIS]
|
100% (n=26)
|
11691526
|
IBIS
|
40 / 7739
|
3
|
(HPO:0006682)
|
Ventricular extrasystoles |
Very frequent [IBIS]
|
92% (n=26)
|
11691526
|
IBIS
|
25 / 7739
|
4
|
(HPO:0010719)
|
Abnormality of hair texture |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
2945574
|
IBIS
|
24 / 7739
|
5
|
(HPO:0011675)
|
Arrhythmia |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
24187773
|
IBIS
|
226 / 7739
|
6
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [IBIS]
Very frequent [Orphanet]
Very frequent [IBIS]
|
|
23703567
|
IBIS
|
216 / 7739
|
7
|
(HPO:0001638)
|
Cardiomyopathy |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
23559728
|
IBIS
|
192 / 7739
|
8
|
(HPO:0010872)
|
EKG: T-wave inversion |
Frequent [IBIS]
|
77% (n=26)
|
11691526
|
IBIS
|
19 / 7739
|
9
|
(HPO:0006677)
|
Prolonged QRS complex |
Frequent [IBIS]
|
73% (n=26)
|
11691526
|
IBIS
|
16 / 7739
|
10
|
(HPO:0001279)
|
Syncope |
Frequent [IBIS]
|
58% (n=26)
|
11691526
|
IBIS
|
94 / 7739
|
11
|
(HPO:0011712)
|
Right bundle branch block |
Frequent [IBIS]
|
35% (n=26)
|
11691526
|
IBIS
|
34 / 7739
|
12
|
(HPO:0004308)
|
Ventricular arrhythmia |
Frequent [IBIS]
|
|
24187773
|
IBIS
|
46 / 7739
|
13
|
(HPO:0001962)
|
Palpitations |
Occasional [IBIS]
|
8% (n=26)
|
11691526
|
IBIS
|
62 / 7739
|
14
|
(HPO:0012378)
|
Fatigue |
Rare [IBIS]
|
4% (n=26)
|
11691526
|
IBIS
|
50 / 7739
|
15
|
(HPO:0000961)
|
Cyanosis |
Rare [IBIS]
|
|
24187773
|
IBIS
|
60 / 7739
|
16
|
(HPO:0004756)
|
Ventricular tachycardia |
Rare [IBIS]
|
|
24187773
|
IBIS
|
55 / 7739
|
17
|
(HPO:0100759)
|
Clubbing of fingers |
Rare [IBIS]
|
|
24187773
|
IBIS
|
40 / 7739
|
18
|
(HPO:0002299)
|
Brittle hair |
Frequent [Orphanet]
|
|
2945574
|
IBIS
|
52 / 7739
|
19
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
24187773
|
IBIS
|
232 / 7739
|
20
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
23559728
|
IBIS
|
87 / 7739
|
21
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
16816500
|
IBIS
|
141 / 7739
|
22
|
(HPO:0001640)
|
Cardiomegaly |
|
|
23703567
|
IBIS
|
81 / 7739
|
23
|
(HPO:0002212)
|
Curly hair |
|
|
23448613
|
IBIS
|
21 / 7739
|
24
|
(HPO:0005141)
|
Episodes of ventricular tachycardia |
|
|
24187773
|
IBIS
|
2 / 7739
|
25
|
(MedDRA:10058093)
|
Arrhythmogenic right ventricular dysplasia |
|
|
23559728
|
IBIS
|
5 / 7739
|
26
|
(OMIM)
|
Dense, rough, and bristly hair |
|
|
2945574
|
IBIS
|
1 / 7739
|
27
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
23448613
|
IBIS
|
76 / 7739
|
28
|
(HPO:0008404)
|
Nail dystrophy |
|
|
22572432
|
IBIS
|
89 / 7739
|
29
|
(HPO:0002094)
|
Dyspnea |
|
|
23703567
|
IBIS
|
132 / 7739
|
30
|
(HPO:0005135)
|
EKG: T-wave abnormalities |
|
|
23703567
|
IBIS
|
19 / 7739
|
31
|
(MedDRA:10064780)
|
Breath sounds abnormal |
|
|
23703567
|
IBIS
|
3 / 7739
|
32
|
(HPO:0005133)
|
Right ventricular dilatation |
|
|
23703567
|
IBIS
|
14 / 7739
|
33
|
(MedDRA:10067282)
|
Right atrial dilatation |
|
|
23703567
|
IBIS
|
8 / 7739
|
34
|
(HPO:0012664)
|
Reduced ejection fraction |
|
|
23703567
|
IBIS
|
32 / 7739
|
35
|
(HPO:0001645)
|
Sudden cardiac death |
|
|
23559728
|
IBIS
|
84 / 7739
|
36
|
(HPO:0001707)
|
Abnormality of the right ventricle |
|
|
25430408
|
IBIS
|
7 / 7739
|