|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001637)
|
Abnormality of the myocardium |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
3
|
(HPO:0001878)
|
Hemolytic anemia |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
|
4
|
(HPO:0001578)
|
Hypercortisolism |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
5
|
(HPO:0100646)
|
Thyroiditis |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
7
|
(HPO:0001596)
|
Alopecia |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
8
|
(HPO:0001097)
|
Keratoconjunctivitis sicca |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
9
|
(HPO:0100614)
|
Myositis |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
|
10
|
(HPO:0100526)
|
Neoplasm of the lung |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0002716)
|
Lymphadenopathy |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
12
|
(HPO:0100769)
|
Synovitis |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
13
|
(HPO:0000988)
|
Skin rash |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
14
|
(HPO:0100749)
|
Chest pain |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
15
|
(HPO:0002896)
|
Neoplasm of the liver |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
16
|
(HPO:0000651)
|
Diplopia |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
17
|
(HPO:0003473)
|
Fatigable weakness |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
18
|
(HPO:0002103)
|
Abnormality of the pleura |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
19
|
(HPO:0004332)
|
Abnormality of lymphocytes |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
20
|
(HPO:0000100)
|
Nephrotic syndrome |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
|
21
|
(HPO:0001876)
|
Pancytopenia |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
22
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
23
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
24
|
(HPO:0000217)
|
Xerostomia |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
25
|
(HPO:0001697)
|
Abnormality of the pericardium |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
26
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
27
|
(HPO:0002585)
|
Abnormality of the peritoneum |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
|
28
|
(HPO:0100521)
|
Neoplasm of the thymus |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
29
|
(HPO:0100522)
|
Thymoma |
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0010515)
|
Aplasia/Hypoplasia of the thymus |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
31
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
32
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
33
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
34
|
([DEL]MedDRA:10011224)
|
Cough |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
35
|
(HPO:0045026)
|
Abnormality of the mediastinum |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|