|
1
|
(HPO:0001873)
|
Thrombocytopenia |
rare [HPO:skoehler]
|
|
|
|
224 / 7739
|
|
2
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0001900)
|
Increased hemoglobin |
|
|
|
|
7 / 7739
|
|
4
|
(HPO:0001972)
|
Macrocytic anemia |
|
|
|
|
26 / 7739
|
|
5
|
(HPO:0003540)
|
Impaired platelet aggregation |
rare [HPO:skoehler]
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0004312)
|
Abnormality of reticulocytes |
|
|
|
|
1 / 7739
|
|
7
|
(HPO:0004445)
|
Elliptocytosis |
|
|
|
|
15 / 7739
|
|
8
|
(HPO:0011273)
|
Anisocytosis |
|
|
|
|
8 / 7739
|
|
9
|
(HPO:0011875)
|
Abnormal platelet morphology |
rare [HPO:skoehler]
|
|
|
|
8 / 7739
|
|
10
|
(HPO:0012135)
|
Abnormality of cells of the granulocytic lineage |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Neutropenia, variable |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Thrombocytopenia, late-onset (1 patient) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Increased fetal hemoglobin |
|
|
|
|
5 / 7739
|
|
14
|
(OMIM)
|
Peripheral blood smear shows abnormal red cells |
|
|
|
|
1 / 7739
|
|
15
|
(MedDRA:10025382)
|
Macrocytosis |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0004447)
|
Poikilocytosis |
|
|
|
|
16 / 7739
|
|
17
|
(OMIM)
|
Elliptocytes |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Fragmented red cells |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Inappropriately low reticulocyte counts |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Bone marrow biopsy shows erythrocyte hypocellularity |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Granulocyte hypocellularity (in some patients) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Micromegakaryocytes (in some patients) |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Trilineage dysplasia (in some patients) |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Abnormal platelet morphology with paucity of granules (in some patients) |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
26
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
27
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|