1
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
2
|
(HPO:0000225)
|
Gingival bleeding |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
3
|
(HPO:0000246)
|
Sinusitis |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
4
|
(HPO:0000421)
|
Epistaxis |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
5
|
(HPO:0000978)
|
Bruising susceptibility |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
6
|
(HPO:0001025)
|
Urticaria |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
7
|
(HPO:0001287)
|
Meningitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
8
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
9
|
(HPO:0001874)
|
Abnormality of neutrophils |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
10
|
(HPO:0001878)
|
Hemolytic anemia |
Frequent [Orphanet]
|
|
|
|
83 / 7739
|
11
|
(HPO:0001909)
|
Leukemia |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
12
|
(HPO:0001935)
|
Microcytic anemia |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
13
|
(HPO:0002037)
|
Inflammation of the large intestine |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
14
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
15
|
(HPO:0002170)
|
Intracranial hemorrhage |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
16
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
17
|
(HPO:0002383)
|
Encephalitis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
18
|
(HPO:0002665)
|
Lymphoma |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
19
|
(HPO:0002960)
|
Autoimmunity |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
20
|
(HPO:0006510)
|
Chronic obstructive pulmonary disease |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
21
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
22
|
(HPO:0010515)
|
Aplasia/Hypoplasia of the thymus |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
23
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
24
|
(HPO:0100749)
|
Chest pain |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
25
|
(HPO:0100774)
|
Hyperostosis |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
26
|
(HPO:0100806)
|
Sepsis |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
27
|
(HPO:0100820)
|
Glomerulopathy |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
28
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
29
|
(HPO:0011869)
|
Abnormal platelet function |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
30
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
31
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
32
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
33
|
(HPO:0011029)
|
Internal hemorrhage |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
34
|
(HPO:0011875)
|
Abnormal platelet morphology |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
35
|
(HPO:0003010)
|
Prolonged bleeding time |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
36
|
(HPO:0100769)
|
Synovitis |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
37
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
38
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
39
|
(HPO:0000389)
|
Chronic otitis media |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
40
|
(HPO:0012089)
|
Arteritis |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
41
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
|
|
218 / 7739
|
42
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
43
|
(HPO:0000858)
|
Menstrual irregularities |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
44
|
(HPO:0002088)
|
Abnormality of lung morphology |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
45
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
46
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
47
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
48
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
49
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
50
|
(HPO:0000979)
|
Purpura |
|
|
|
|
27 / 7739
|
51
|
(HPO:0002573)
|
Hematochezia |
|
|
|
|
18 / 7739
|
52
|
(HPO:0005537)
|
Decreased mean platelet volume |
|
|
|
|
7 / 7739
|