|
1
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
2
|
(HPO:0000698)
|
Conical tooth |
|
|
|
|
14 / 7739
|
|
3
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
|
4
|
(HPO:0000970)
|
Anhidrosis |
|
|
|
|
24 / 7739
|
|
5
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
6
|
(HPO:0002046)
|
Heat intolerance |
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
8
|
(HPO:0004798)
|
Recurrent infection of the gastrointestinal tract |
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
10
|
(HPO:0011120)
|
Concave nasal ridge |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0011136)
|
Aplasia of the sweat glands |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Cutaneous candidiasis |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Light, sparse hair |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
15
|
(OMIM)
|
Low or normal serum immunoglobulins |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Defective production of NFKB1-dependent cytokines by white blood cells |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Impaired immune responses |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
20
|
(HPO:0007476)
|
Anhidrotic ectodermal dysplasia |
|
|
|
|
4 / 7739
|