|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
4
|
(HPO:0002849)
|
Absence of lymph node germinal center |
|
|
|
|
4 / 7739
|
|
5
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0006685)
|
Endocardial fibrosis |
|
|
|
|
9 / 7739
|
|
7
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
8
|
(OMIM)
|
Multiple infections |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Mature plasma cell deficiency |
|
|
|
|
1 / 7739
|
|
10
|
(MedDRA:10062173)
|
Venoocclusive disease |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|