|
1
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0001025)
|
Urticaria |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
3
|
(HPO:0001595)
|
Abnormality of the hair |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0100326)
|
Immunologic hypersensitivity |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
5
|
(HPO:0000956)
|
Acanthosis nigricans |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
7
|
(HPO:0002099)
|
Asthma |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0000988)
|
Skin rash |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
9
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
10
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
11
|
(HPO:0000964)
|
Eczema |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
13
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
14
|
(HPO:0001019)
|
Erythroderma |
|
|
|
|
24 / 7739
|
|
15
|
(HPO:0010783)
|
Erythema |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
16
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
17
|
(HPO:0002299)
|
Brittle hair |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
18
|
(HPO:0002097)
|
Emphysema |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
19
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
20
|
(HPO:0001944)
|
Dehydration |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
23
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
24
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
25
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
26
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
27
|
(HPO:0000958)
|
Dry skin |
Occasional [Orphanet]
|
|
|
|
152 / 7739
|
|
28
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
29
|
(HPO:0003011)
|
Abnormality of the musculature |
|
|
|
|
47 / 7739
|
|
30
|
(HPO:0003212)
|
Increased IgE level |
|
|
|
|
13 / 7739
|
|
31
|
(HPO:0004906)
|
Hypernatremic dehydration |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0007479)
|
Congenital nonbullous ichthyosiform erythroderma |
|
|
|
|
13 / 7739
|
|
33
|
(HPO:0011473)
|
Villous atrophy |
|
|
|
|
14 / 7739
|
|
34
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
35
|
(HPO:0100665)
|
Angioedema |
|
|
|
|
14 / 7739
|
|
36
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
|
37
|
(OMIM)
|
Enteropathy with villous atrophy |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Ichthyosis linearis circumflexa |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Sparse, brittle scalp hair |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0001880)
|
Eosinophilia |
|
|
|
|
35 / 7739
|
|
41
|
(OMIM)
|
Hay fever |
|
|
|
|
2 / 7739
|
|
42
|
(MedDRA:10016946)
|
Food allergy |
|
|
|
|
3 / 7739
|
|
43
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
44
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
|
45
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
46
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|