|
1
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
2
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
3
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
4
|
(HPO:0002653)
|
Bone pain |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
6
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
7
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
8
|
(HPO:0007421)
|
Telangiectases of the cheeks |
|
|
|
|
2 / 7739
|
|
9
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|
|
10
|
(OMIM)
|
Lacunar bone lesions (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0003868)
|
Humeral cortical thickening |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Modeling defects at the long bone diaphyses (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
14
|
(OMIM)
|
Decreased IgM and IgG2 |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Lack of acquired antibodies |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Low memory B cells |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Low naive T cells |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased T cell proliferation |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|