|
1
|
(HPO:0000246)
|
Sinusitis |
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0000778)
|
Hypoplasia of the thymus |
|
|
|
|
13 / 7739
|
|
3
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
5
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
11
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
12
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
13
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
14
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
15
|
(HPO:0001888)
|
Lymphopenia |
|
|
|
|
43 / 7739
|
|
16
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
|
17
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
|
18
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0005357)
|
Defective B cell differentiation |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0006254)
|
Elevated alpha-fetoprotein |
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0008669)
|
Abnormal spermatogenesis |
|
|
|
|
11 / 7739
|
|
23
|
(HPO:0012189)
|
Hodgkin lymphoma |
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0012539)
|
Non-Hodgkin lymphoma |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0012387)
|
Bronchitis |
|
|
|
|
8 / 7739
|
|
26
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
27
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
28
|
(OMIM)
|
Progeric skin changes |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Sclerodermatous skin changes |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Progeric hair changes |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Cerebellar cortical degeneration |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
33
|
(OMIM)
|
Normal number of B cells |
|
|
|
|
7 / 7739
|
|
34
|
(HPO:0005403)
|
T lymphocytopenia |
|
|
|
|
10 / 7739
|
|
35
|
(OMIM)
|
Reduced CD4+ T cells |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Increased levels of T cells bearing gamma/delta antigen receptor |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Reduced levels of cells with IgM receptors |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Increased risk in heterozygotes |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Increased levels of carcinoembryonic antigen |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Reduced IgE levels |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Reduced IgG levels, particularly the IgG2 subclass |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Monomeric IgM |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Immunoglobulin antibodies present |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
CD4+/CD8+ ratio is reversed |
|
|
|
|
1 / 7739
|