|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001409)
|
Portal hypertension |
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
5
|
(HPO:0004936)
|
Venous thrombosis |
|
|
|
|
41 / 7739
|
|
6
|
(OMIM)
|
Hepatic venous thrombosis |
|
|
|
|
1 / 7739
|
|
7
|
(MedDRA:10036206)
|
Portal vein thrombosis |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0011147)
|
Typical absence seizures |
|
|
|
|
33 / 7739
|
|
10
|
(HPO:0010819)
|
Atonic seizures |
|
|
|
|
18 / 7739
|
|
11
|
(OMIM)
|
No hemolysis |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
No bone marrow abnormalities |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., CD59 107271 and CD24 600274) on hematopoietic cells |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0030242)
|
Portal vein thrombosis |
|
|
|
|
2 / 7739
|