|
1
|
(HPO:0000246)
|
Sinusitis |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
3
|
(HPO:0001287)
|
Meningitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
4
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
5
|
(HPO:0001874)
|
Abnormality of neutrophils |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
6
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
7
|
(HPO:0001999)
|
Abnormal facial shape |
Occasional [Orphanet]
|
|
|
|
169 / 7739
|
|
8
|
(HPO:0002014)
|
Diarrhea |
Very frequent [Orphanet]
|
|
|
|
225 / 7739
|
|
9
|
(HPO:0002024)
|
Malabsorption |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
10
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
11
|
(HPO:0002960)
|
Autoimmunity |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
14
|
(HPO:0100765)
|
Abnormality of the tonsils |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
15
|
(HPO:0100806)
|
Sepsis |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
|
16
|
(HPO:0100838)
|
Recurrent cutaneous abscess formation |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
17
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
18
|
(HPO:0100769)
|
Synovitis |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
19
|
(HPO:0000389)
|
Chronic otitis media |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
20
|
(HPO:0100763)
|
Abnormality of the lymphatic system |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
21
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
22
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
23
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
24
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
25
|
(HPO:0003549)
|
Abnormality of connective tissue |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
|
26
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
27
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
28
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
29
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
|
30
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
31
|
(HPO:0003003)
|
Colon cancer |
|
|
|
|
20 / 7739
|
|
32
|
(HPO:0004432)
|
Agammaglobulinemia |
|
|
|
|
17 / 7739
|
|
33
|
(HPO:0005215)
|
Frequent Giardia lamblia infestation |
|
|
|
|
2 / 7739
|