|
1
|
(HPO:0004760)
|
Congenital septal defect |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
2
|
(HPO:0003045)
|
Abnormality of the patella |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
3
|
(HPO:0002997)
|
Abnormality of the ulna |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
|
5
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
6
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
7
|
(HPO:0002208)
|
Coarse hair |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
8
|
(HPO:0001874)
|
Abnormality of neutrophils |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
10
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
|
11
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
12
|
(HPO:0002299)
|
Brittle hair |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
13
|
(HPO:0000458)
|
Anosmia |
|
|
|
|
49 / 7739
|
|
14
|
(HPO:0100763)
|
Abnormality of the lymphatic system |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
17
|
(HPO:0001888)
|
Lymphopenia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
18
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
19
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
20
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
|
21
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
22
|
(HPO:0001574)
|
Abnormality of the integument |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
24
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
25
|
(HPO:0004430)
|
Severe combined immunodeficiency |
|
|
|
|
16 / 7739
|
|
26
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
|
27
|
(OMIM)
|
Unfused olecranon |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Candidiasis, chronic |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
30
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
31
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
32
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|