|
1
|
(HPO:0000989)
|
Pruritus |
Frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
2
|
(HPO:0001123)
|
Visual field defect |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
5
|
(HPO:0001872)
|
Abnormality of thrombocytes |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
|
7
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
8
|
(HPO:0002141)
|
Gait imbalance |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
9
|
(HPO:0002488)
|
Acute leukemia |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
|
10
|
(HPO:0002863)
|
Myelodysplasia |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0004936)
|
Venous thrombosis |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
12
|
(HPO:0004420)
|
Arterial thrombosis |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
13
|
(HPO:0100749)
|
Chest pain |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
14
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
15
|
(HPO:0002140)
|
Ischemic stroke |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
16
|
(HPO:0011875)
|
Abnormal platelet morphology |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
17
|
(HPO:0003010)
|
Prolonged bleeding time |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
18
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
19
|
(HPO:0005268)
|
Spontaneous abortion |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
20
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
21
|
(HPO:0001909)
|
Leukemia |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
22
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
23
|
(HPO:0000763)
|
Sensory neuropathy |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|