|
1
|
(HPO:0011902)
|
Abnormal hemoglobin |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
3
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
4
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
7
|
(HPO:0000980)
|
Pallor |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
8
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
11
|
(HPO:0004936)
|
Venous thrombosis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
12
|
(HPO:0001945)
|
Fever |
Frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
13
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
14
|
(HPO:0001935)
|
Microcytic anemia |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
15
|
(HPO:0000929)
|
Abnormality of the skull |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
16
|
(HPO:0012437)
|
Abnormal gallbladder morphology |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
17
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
18
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
19
|
(HPO:0011031)
|
Abnormality of iron homeostasis |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
20
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
21
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|