|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
3
|
(HPO:0001890)
|
Autoimmune hemolytic anemia |
|
|
|
|
17 / 7739
|
|
4
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
|
5
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
6
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
8
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
9
|
(HPO:0007676)
|
Hypoplasia of the iris |
|
|
|
|
22 / 7739
|
|
10
|
(OMIM)
|
Iris hypoplasia, partial |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Defective enamel development |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Myopathy, nonprogressive |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Susceptibility to infection with human herpesvirus |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Impaired T cell activation |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Impaired T cell proliferative response |
|
|
|
|
2 / 7739
|
|
16
|
(MedDRA:10025260)
|
Lymphocyte count normal |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Normal serum immunoglobulin levels |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Impaired seroconversion of immunoglobulins in response to vaccination |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Decreased T cell production of cytokines |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0100726)
|
Kaposi's sarcoma |
|
|
|
|
3 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|