1
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
3
|
(HPO:0001287)
|
Meningitis |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
4
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
5
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
6
|
(HPO:0001878)
|
Hemolytic anemia |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
7
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
8
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
9
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
10
|
(HPO:0002716)
|
Lymphadenopathy |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
11
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
12
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
13
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
14
|
(HPO:0100806)
|
Sepsis |
Very frequent [Orphanet]
|
|
|
|
48 / 7739
|
15
|
(HPO:0000389)
|
Chronic otitis media |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
16
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
|
|
218 / 7739
|
17
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
19
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
20
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
21
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
22
|
(HPO:0002046)
|
Heat intolerance |
|
|
|
|
13 / 7739
|
23
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
24
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
25
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
26
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
27
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
28
|
(HPO:0011107)
|
Recurrent aphthous stomatitis |
|
|
|
|
13 / 7739
|