|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
3
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
4
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
5
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
6
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
7
|
(HPO:0004935)
|
Pulmonary artery atresia |
|
|
|
|
12 / 7739
|
|
8
|
(OMIM)
|
Superior vena cava left-sided, draining into left atrium |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Transaminases mildly elevated |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Functional hyposplenism |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Howell-Jolly bodies present |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Increased number of CD4(-)CD8(-)TCR-alpha-beta(+) T cells |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Increased Fas ligand |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Increased interleukin 10 |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|