|
1
|
(HPO:0000421)
|
Epistaxis |
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000967)
|
Petechiae |
|
|
|
|
26 / 7739
|
|
3
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
4
|
(HPO:0001905)
|
Congenital thrombocytopenia |
|
|
|
|
4 / 7739
|
|
5
|
(HPO:0001927)
|
Acanthocytosis |
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0001934)
|
Persistent bleeding after trauma |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0004447)
|
Poikilocytosis |
Occasional [HPO:skoehler]
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0010972)
|
Anemia of inadequate production |
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
10
|
(OMIM)
|
Macrothrombocytes |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Platelets have paucity of granules |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Platelets had abnormal membrane complexes |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Platelets have increased smooth endoplasmic reticulum |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Abnormal platelet maturation |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Impaired platelet function |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Elevated thrombopoietin (TPO) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Increased number of abnormal megakaryocytes seen on bone marrow biopsy |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Abnormal RBC morphology (anisocytosis, poikilocytes, acanthocytes) (in some patients) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Macrothrombocytes occasionally noted in carrier female peripheral blood smear |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
21
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
22
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|