1
|
(HPO:0000246)
|
Sinusitis |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
2
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
3
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
4
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
5
|
(HPO:0001287)
|
Meningitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
6
|
(HPO:0001874)
|
Abnormality of neutrophils |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
7
|
(HPO:0001944)
|
Dehydration |
Occasional [Orphanet]
|
|
|
|
59 / 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:0002754)
|
Osteomyelitis |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
12
|
(HPO:0000356)
|
Abnormality of the outer ear |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
13
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
14
|
(HPO:0100806)
|
Sepsis |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
15
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
16
|
(HPO:0002110)
|
Bronchiectasis |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
17
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
18
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
19
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
20
|
(HPO:0000389)
|
Chronic otitis media |
Very frequent [Orphanet]
|
|
|
|
64 / 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:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
25
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
26
|
([DEL]MedDRA:10011224)
|
Cough |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
27
|
(HPO:0003549)
|
Abnormality of connective tissue |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
28
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
29
|
(HPO:0012740)
|
Papilloma |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
31
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
32
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
33
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
34
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
35
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
36
|
(HPO:0002743)
|
Recurrent enteroviral infections |
|
|
|
|
2 / 7739
|
37
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
38
|
(HPO:0004432)
|
Agammaglobulinemia |
|
|
|
|
17 / 7739
|
39
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
40
|
(HPO:0010976)
|
B lymphocytopenia |
|
|
|
|
8 / 7739
|
41
|
(HPO:0011108)
|
Recurrent sinusitis |
|
|
|
|
30 / 7739
|
42
|
(HPO:0100280)
|
Crohn's disease |
|
|
|
|
3 / 7739
|