1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
9426039
|
IBIS
|
524 / 7739
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
Occasional [Orphanet]
occasional [HPO]
|
|
10769282
|
IBIS
|
165 / 7739
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
Occasional [Orphanet]
occasional [HPO]
|
|
10769282
|
IBIS
|
150 / 7739
|
4
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
Occasional [Orphanet]
occasional [HPO]
|
|
8682558
|
IBIS
|
41 / 7739
|
5
|
(HPO:0000982)
|
Palmoplantar keratoderma |
Occasional [Orphanet]
|
|
8682558
|
IBIS
|
40 / 7739
|
6
|
(HPO:0007447)
|
Diffuse palmoplantar hyperkeratosis |
Occasional [Orphanet]
occasional [HPO]
|
|
8682558
|
IBIS
|
8 / 7739
|
7
|
(HPO:0003198)
|
Myopathy |
Occasional [Orphanet]
|
|
14581388
|
IBIS
|
151 / 7739
|
8
|
(HPO:0100578)
|
Lipoatrophy |
Occasional [Orphanet]
|
|
23329710
|
IBIS
|
30 / 7739
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Occasional [Orphanet]
|
|
10904833
|
IBIS
|
214 / 7739
|
10
|
(HPO:0002094)
|
Dyspnea |
|
|
20301486
|
IBIS
|
132 / 7739
|
11
|
(HPO:0012378)
|
Fatigue |
|
|
20301486
|
IBIS
|
50 / 7739
|
12
|
(HPO:0001279)
|
Syncope |
|
|
14581388
|
IBIS
|
94 / 7739
|
13
|
(HPO:0012735)
|
Cough |
|
|
10448494
|
IBIS
|
24 / 7739
|
14
|
(HPO:0001962)
|
Palpitations |
|
|
14581388
|
IBIS
|
62 / 7739
|
15
|
(MedDRA:10000188)
|
Abnormal weight gain |
|
|
9290498
|
IBIS
|
2 / 7739
|
16
|
(HPO:0000969)
|
Edema |
|
|
20301486
|
IBIS
|
117 / 7739
|
17
|
(HPO:0011968)
|
Feeding difficulties |
|
|
9290498
|
IBIS
|
240 / 7739
|
18
|
(OMIM)
|
Abnormal sweating |
|
|
9290498
|
IBIS
|
2 / 7739
|
19
|
(HPO:0002789)
|
Tachypnea |
|
|
15626312
|
IBIS
|
48 / 7739
|
20
|
(HPO:0011675)
|
Arrhythmia |
|
|
20301486
|
IBIS
|
226 / 7739
|
21
|
(OMIM)
|
Left ventricular enlargement |
|
|
20301486
|
IBIS
|
9 / 7739
|
22
|
(MedDRA:10071436)
|
Systolic dysfunction |
|
|
20301486
|
IBIS
|
13 / 7739
|
23
|
(HPO:0001711)
|
Abnormality of the left ventricle |
|
|
23022708
|
IBIS
|
22 / 7739
|
24
|
(MedDRA:10031123)
|
Orthopnoea |
|
|
20301486
|
IBIS
|
1 / 7739
|
25
|
(HPO:0001635)
|
Congestive heart failure |
|
|
20301486
|
IBIS
|
232 / 7739
|
26
|
(HPO:0001297)
|
Stroke |
|
|
20301486
|
IBIS
|
44 / 7739
|
27
|
(HPO:0001907)
|
Thromboembolism |
|
|
20301486
|
IBIS
|
15 / 7739
|
28
|
(HPO:0001699)
|
Sudden death |
|
|
25498755
|
IBIS
|
34 / 7739
|