1
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
2
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
3
|
(HPO:0000271)
|
Abnormality of the face |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
4
|
(HPO:0100750)
|
Atelectasis |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
5
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
6
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
7
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
8
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
9
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
10
|
(HPO:0001805)
|
Thick nail |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
11
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
12
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
13
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
14
|
(HPO:0002665)
|
Lymphoma |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
15
|
(HPO:0000964)
|
Eczema |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
16
|
(HPO:0000976)
|
Eczematoid dermatitis |
|
|
|
|
22 / 7739
|
17
|
(HPO:0002754)
|
Osteomyelitis |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
18
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
19
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
20
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
21
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
22
|
(HPO:0000989)
|
Pruritus |
Very frequent [Orphanet]
|
|
|
|
111 / 7739
|
23
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
Occasional [HPO:probinson]
|
|
|
|
132 / 7739
|
24
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
25
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
26
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
27
|
(HPO:0001879)
|
Abnormality of eosinophils |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
28
|
(HPO:0001880)
|
Eosinophilia |
|
|
|
|
35 / 7739
|
29
|
(HPO:0200037)
|
Skin vesicle |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
30
|
(HPO:0002715)
|
Abnormality of the immune system |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
31
|
(HPO:0001945)
|
Fever |
Occasional [Orphanet]
|
|
|
|
218 / 7739
|
32
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
33
|
(HPO:0000230)
|
Gingivitis |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
34
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
35
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
36
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
37
|
(HPO:0002617)
|
Aneurysm |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
38
|
(HPO:0002726)
|
Recurrent Staphylococcus aureus infections |
|
|
|
|
5 / 7739
|
39
|
(HPO:0002841)
|
Recurrent fungal infections |
|
|
|
|
16 / 7739
|
40
|
(HPO:0003212)
|
Increased IgE level |
|
|
|
|
13 / 7739
|
41
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
42
|
(HPO:0005425)
|
Recurrent sinopulmonary infections |
|
|
|
|
10 / 7739
|
43
|
(HPO:0006335)
|
Persistence of primary teeth |
|
|
|
|
12 / 7739
|
44
|
(OMIM)
|
Asymmetric face |
|
|
|
|
5 / 7739
|
45
|
(OMIM)
|
Mild prognathism |
|
|
|
|
3 / 7739
|
46
|
(OMIM)
|
Thickening of the soft tissue of the nose |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Retained primary teeth |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Reduced resorption of primary tooth roots |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Pneumatocele formation |
|
|
|
|
1 / 7739
|
50
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
51
|
(OMIM)
|
Vertebral body abnormalities |
|
|
|
|
3 / 7739
|
52
|
(OMIM)
|
Eczema, severe |
|
|
|
|
2 / 7739
|
53
|
(OMIM)
|
Recurrent skin abscesses |
|
|
|
|
2 / 7739
|
54
|
(OMIM)
|
Abscesses are 'cold,' lacking erythema, heat, and swelling |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Increased serum IgE |
|
|
|
|
4 / 7739
|
56
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
57
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
58
|
([DEL]MedDRA:10011224)
|
Cough |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
59
|
(HPO:0003549)
|
Abnormality of connective tissue |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
60
|
(HPO:0012710)
|
Ingrown nail |
Frequent [Orphanet]
|
|
|
|
1 / 7739
|
61
|
(HPO:0030350)
|
Erythematous papule |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
62
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
63
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|