|
1
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
2
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000460)
|
Narrow nose |
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
6
|
(HPO:0000979)
|
Purpura |
|
|
|
|
27 / 7739
|
|
7
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
|
|
22 / 7739
|
|
8
|
(HPO:0001045)
|
Vitiligo |
|
|
|
|
13 / 7739
|
|
9
|
(HPO:0001370)
|
Rheumatoid arthritis |
|
|
|
|
12 / 7739
|
|
10
|
(HPO:0001973)
|
Autoimmune thrombocytopenia |
|
|
|
|
18 / 7739
|
|
11
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
12
|
(HPO:0002091)
|
Restrictive ventilatory defect |
|
|
|
|
46 / 7739
|
|
13
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
14
|
(HPO:0002657)
|
Spondylometaphyseal dysplasia |
|
|
|
|
12 / 7739
|
|
15
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
16
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
17
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0004979)
|
Metaphyseal sclerosis |
|
|
|
|
5 / 7739
|
|
20
|
(HPO:0005374)
|
Cellular immunodeficiency |
|
|
|
|
5 / 7739
|
|
21
|
(HPO:0005387)
|
Combined immunodeficiency |
|
|
|
|
5 / 7739
|
|
22
|
(HPO:0005403)
|
T lymphocytopenia |
|
|
|
|
10 / 7739
|
|
23
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
|
|
32 / 7739
|
|
24
|
(HPO:0007526)
|
Hypopigmented skin patches on arms |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0011108)
|
Recurrent sinusitis |
|
|
|
|
30 / 7739
|
|
26
|
(OMIM)
|
Otitis media, multiple episodes |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Narrow, pointy nose |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Recurrent respiratory tract infections |
|
|
|
|
3 / 7739
|
|
29
|
(OMIM)
|
Interstitial fibrosis |
|
|
|
|
24 / 7739
|
|
30
|
(OMIM)
|
Sclerotic, irregular metaphyses (distal radii and ulnae, distal femurs, proximal fibulae) |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Normal hair shaft morphology |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
33
|
(HPO:0008191)
|
Thyroid agenesis |
|
|
|
|
11 / 7739
|
|
34
|
(OMIM)
|
Combined humoral and cellular immunodeficiency |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
36
|
(OMIM)
|
Autoimmune disorders (i.e., ITP, juvenile rheumatoid arthritis (JRA), hypothyroidism, Crohn disease) |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Decreased T cell response to mitogens |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Decreased specific antibodies |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Normal to elevated IgG |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
42
|
(HPO:0002958)
|
Immune dysregulation |
|
|
|
|
5 / 7739
|
|
43
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|