|
1
|
(HPO:0000602)
|
Ophthalmoplegia |
Very frequent [IBIS]
|
|
8544197; 8544197
|
IBIS
|
56 / 7739
|
|
2
|
(HPO:0011915)
|
Cardiovascular calcification |
Very frequent [IBIS]
|
|
25755533; 7475546
|
IBIS
|
1 / 7739
|
|
3
|
(HPO:0003656)
|
Decreased beta-glucocerebrosidase protein and activity |
Very frequent [IBIS]
|
|
25755533; 1333717; 7475546
|
IBIS
|
5 / 7739
|
|
4
|
(OMIM)
|
Gaucher cells in bone marrow |
Very frequent [IBIS]
|
|
6507325; 1333717; 8544197; 11359469
|
IBIS
|
5 / 7739
|
|
5
|
(HPO:0001744)
|
Splenomegaly |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
6507325; 7475546; 8544197; 11359469
|
IBIS
|
337 / 7739
|
|
6
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
1333717
|
IBIS
|
539 / 7739
|
|
7
|
(HPO:0001654)
|
Abnormality of the heart valves |
Very frequent [Orphanet]
|
|
1333717
|
IBIS
|
49 / 7739
|
|
8
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
1333717
|
IBIS
|
278 / 7739
|
|
9
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
6507325
|
IBIS
|
317 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
|
|
8544197
|
IBIS
|
576 / 7739
|
|
11
|
(HPO:0001640)
|
Cardiomegaly |
|
|
6507325; 11359469
|
IBIS
|
81 / 7739
|
|
12
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Very frequent [Orphanet]
|
|
6507325
|
IBIS
|
55 / 7739
|
|
13
|
(HPO:0001761)
|
Pes cavus |
|
|
8544197
|
IBIS
|
225 / 7739
|
|
14
|
(HPO:0001876)
|
Pancytopenia |
|
|
7475546; 8544197
|
IBIS
|
89 / 7739
|
|
15
|
(HPO:0002240)
|
Hepatomegaly |
|
|
6507325; 8544197
|
IBIS
|
467 / 7739
|
|
16
|
(HPO:0004963)
|
Calcification of the aorta |
|
|
6507325; 8544197; 11359469
|
IBIS
|
3 / 7739
|
|
17
|
(HPO:0005173)
|
Calcific aortic valve stenosis |
|
|
1333717
|
IBIS
|
1 / 7739
|
|
18
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
11359469
|
IBIS
|
77 / 7739
|
|
19
|
(HPO:0007957)
|
Corneal opacity |
|
|
25755533; 1333717; 7475546; 8544197
|
IBIS
|
84 / 7739
|
|
20
|
(HPO:0200129)
|
Calcific mitral stenosis |
|
|
1333717; 7475546
|
IBIS
|
2 / 7739
|
|
21
|
(HPO:0005146)
|
Cardiac valve calcification |
|
|
24588457; 8544197
|
IBIS
|
4 / 7739
|
|
22
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Very frequent [Orphanet]
|
|
11359469
|
IBIS
|
57 / 7739
|
|
23
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Very frequent [Orphanet]
|
|
7475546
|
IBIS
|
69 / 7739
|
|
24
|
(HPO:0000605)
|
Supranuclear gaze palsy |
|
|
25755533; 1333717
|
IBIS
|
16 / 7739
|
|
25
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
6507325; 8544197
|
IBIS
|
29 / 7739
|
|
26
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
6507325; 8544197
|
IBIS
|
78 / 7739
|
|
27
|
(HPO:0001263)
|
Global developmental delay |
|
|
6507325
|
IBIS
|
853 / 7739
|
|
28
|
(HPO:0004325)
|
Decreased body weight |
|
|
6507325
|
IBIS
|
492 / 7739
|
|
29
|
(HPO:0004322)
|
Short stature |
|
|
6507325
|
IBIS
|
1232 / 7739
|
|
30
|
(HPO:0000958)
|
Dry skin |
|
|
6507325
|
IBIS
|
152 / 7739
|
|
31
|
(HPO:0000531)
|
Corneal crystals |
|
|
6507325
|
IBIS
|
9 / 7739
|
|
32
|
(HPO:0030148)
|
Heart murmur |
|
|
6507325
|
IBIS
|
29 / 7739
|
|
33
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
|
|
6507325
|
IBIS
|
50 / 7739
|
|
34
|
(HPO:0004382)
|
Mitral valve calcification |
|
|
6507325; 7475546; 8544197; 11359469
|
IBIS
|
5 / 7739
|
|
35
|
(MedDRA:10067286)
|
Left atrial dilatation |
|
|
6507325; 11359469
|
IBIS
|
10 / 7739
|
|
36
|
(HPO:0001714)
|
Ventricular hypertrophy |
|
|
6507325
|
IBIS
|
20 / 7739
|
|
37
|
(HPO:0001780)
|
Abnormality of toe |
|
|
1333717
|
IBIS
|
5 / 7739
|
|
38
|
(OMIM)
|
Leptomeningeal thickening |
|
|
1333717
|
IBIS
|
2 / 7739
|
|
39
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
7475546
|
IBIS
|
54 / 7739
|
|
40
|
(HPO:0004380)
|
Aortic valve calcification |
|
|
7475546; 8544197; 11359469
|
IBIS
|
5 / 7739
|
|
41
|
(HPO:0002098)
|
Respiratory distress |
|
|
7475546
|
IBIS
|
75 / 7739
|
|
42
|
(HPO:0004326)
|
Cachexia |
|
|
7475546; 11359469
|
IBIS
|
71 / 7739
|
|
43
|
(HPO:0000980)
|
Pallor |
|
|
7475546; 11359469
|
IBIS
|
52 / 7739
|
|
44
|
(MedDRA:10037833)
|
Rales |
|
|
7475546; 11359469
|
IBIS
|
4 / 7739
|
|
45
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
7475546; 8544197
|
IBIS
|
49 / 7739
|
|
46
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
7475546; 8544197
|
IBIS
|
36 / 7739
|
|
47
|
(HPO:0006689)
|
Bacterial endocarditis |
|
|
7475546
|
IBIS
|
1 / 7739
|
|
48
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
7475546; 11359469
|
IBIS
|
64 / 7739
|
|
49
|
(HPO:0001718)
|
Mitral stenosis |
|
|
7475546; 8544197
|
IBIS
|
10 / 7739
|
|
50
|
(HPO:0000248)
|
Brachycephaly |
|
|
7475546
|
IBIS
|
222 / 7739
|
|
51
|
(HPO:0000570)
|
Abnormality of saccadic eye movements |
|
|
8544197
|
IBIS
|
12 / 7739
|
|
52
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
8544197
|
IBIS
|
96 / 7739
|
|
53
|
(HPO:0004406)
|
Spontaneous, recurrent epistaxis |
|
|
8544197
|
IBIS
|
7 / 7739
|
|
54
|
(HPO:0001265)
|
Hyporeflexia |
|
|
8544197
|
IBIS
|
208 / 7739
|
|
55
|
(HPO:0003148)
|
Elevated serum acid phosphatase |
|
|
8544197
|
IBIS
|
7 / 7739
|
|
56
|
(OMIM)
|
Right axis deviation |
|
|
11359469
|
IBIS
|
6 / 7739
|
|
57
|
(OMIM)
|
Intraventricular conduction delay |
|
|
11359469
|
IBIS
|
7 / 7739
|
|
58
|
(HPO:0003115)
|
Abnormal EKG |
|
|
11359469
|
IBIS
|
44 / 7739
|
|
59
|
(HPO:0005303)
|
Aortic arch calcification |
|
|
11359469
|
IBIS
|
2 / 7739
|
|
60
|
(HPO:0430021)
|
Abnormality of the common carotid artery |
|
|
11359469
|
IBIS
|
2 / 7739
|
|
61
|
(HPO:0001679)
|
Abnormality of the aorta |
|
|
11359469
|
IBIS
|
5 / 7739
|