|
1
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
2
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
|
6
|
(HPO:0001369)
|
Arthritis |
|
|
|
|
44 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
9
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
10
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
11
|
(HPO:0002037)
|
Inflammation of the large intestine |
|
|
|
|
25 / 7739
|
|
12
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
14
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
15
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
16
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
17
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
|
|
21 / 7739
|
|
18
|
(HPO:0003565)
|
Elevated erythrocyte sedimentation rate |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
20
|
(HPO:0005231)
|
Chronic gastritis |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
22
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
|
|
16 / 7739
|
|
23
|
(HPO:0007371)
|
Corpus callosum atrophy |
|
|
|
|
14 / 7739
|
|
24
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
25
|
(OMIM)
|
Diarrhea, malabsorptive, severe |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Friable duodenum |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Diffuse erythematous maculopapular rash |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Delayed development, severe |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Seizures often associated with infections |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
31
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
32
|
(OMIM)
|
Patchy diffuse hyperintensities on T2-weighted MRI |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
34
|
(OMIM)
|
Decreased B cells |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|