1
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
2
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
3
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
4
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
5
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
6
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
7
|
(HPO:0001337)
|
Tremor |
Very frequent [Orphanet]
|
|
|
|
200 / 7739
|
8
|
(HPO:0001888)
|
Lymphopenia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
9
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
10
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
11
|
(HPO:0002216)
|
Premature graying of hair |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
12
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
13
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
14
|
(HPO:0002664)
|
Neoplasm |
Frequent [Orphanet]
|
|
|
|
111 / 7739
|
15
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
16
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
17
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
18
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
19
|
(HPO:0005352)
|
Severe T-cell immunodeficiency |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
20
|
(HPO:0005978)
|
Type II diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
21
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
22
|
(HPO:0010515)
|
Aplasia/Hypoplasia of the thymus |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
23
|
(HPO:0100579)
|
Mucosal telangiectasiae |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
24
|
(HPO:0100585)
|
Telangiectasia of the skin |
Very frequent [Orphanet]
|
|
|
|
66 / 7739
|
25
|
(HPO:0008734)
|
Decreased testicular size |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
26
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
27
|
(HPO:0001022)
|
Albinism |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
28
|
(HPO:0000496)
|
Abnormality of eye movement |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
29
|
(HPO:0000819)
|
Diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
30
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
31
|
(HPO:0002715)
|
Abnormality of the immune system |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
32
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
33
|
(HPO:0000137)
|
Abnormality of the ovary |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
34
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
35
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
36
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
37
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
38
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
40
|
(HPO:0000134)
|
Female hypogonadism |
|
|
|
|
5 / 7739
|
41
|
(HPO:0000246)
|
Sinusitis |
|
|
|
|
73 / 7739
|
42
|
(HPO:0000524)
|
Conjunctival telangiectasia |
|
|
|
|
17 / 7739
|
43
|
(HPO:0000778)
|
Hypoplasia of the thymus |
|
|
|
|
13 / 7739
|
44
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
45
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
46
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
47
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
48
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
49
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
50
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
51
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
52
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
53
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
54
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
55
|
(HPO:0002837)
|
Recurrent bronchitis |
|
|
|
|
21 / 7739
|
56
|
(HPO:0005357)
|
Defective B cell differentiation |
|
|
|
|
2 / 7739
|
57
|
(HPO:0005407)
|
Decreased number of CD4+ T cells |
|
|
|
|
6 / 7739
|
58
|
(HPO:0006254)
|
Elevated alpha-fetoprotein |
|
|
|
|
10 / 7739
|
59
|
(HPO:0008348)
|
Immunoglobulin IgG2 deficiency |
|
|
|
|
5 / 7739
|
60
|
(HPO:0008669)
|
Abnormal spermatogenesis |
|
|
|
|
11 / 7739
|
61
|
(HPO:0012189)
|
Hodgkin lymphoma |
|
|
|
|
5 / 7739
|
62
|
(HPO:0012539)
|
Non-Hodgkin lymphoma |
|
|
|
|
2 / 7739
|