1
|
(HPO:0011902)
|
Abnormal hemoglobin |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
2
|
(HPO:0011869)
|
Abnormal platelet function |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
3
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
4
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
5
|
(HPO:0003010)
|
Prolonged bleeding time |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
6
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
7
|
(HPO:0000421)
|
Epistaxis |
|
|
|
|
85 / 7739
|
8
|
(HPO:0000967)
|
Petechiae |
|
|
|
|
26 / 7739
|
9
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
10
|
(HPO:0001007)
|
Hirsutism |
rare [HPO:skoehler]
|
|
|
|
91 / 7739
|
11
|
(HPO:0001878)
|
Hemolytic anemia |
variable [HPO:skoehler]
|
|
|
|
83 / 7739
|
12
|
(HPO:0001923)
|
Reticulocytosis |
|
|
|
|
28 / 7739
|
13
|
(OMIM)
|
Photosensitivity bullous dermatitis (1 patient) |
|
|
|
|
1 / 7739
|
14
|
(OMIM)
|
Increased alpha/beta globin ratio in reticulocytes |
|
|
|
|
1 / 7739
|
15
|
(OMIM)
|
Imbalanced hemoglobin chain synthesis |
|
|
|
|
1 / 7739
|
16
|
(OMIM)
|
Elevated HbA(2) |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Elevated HbF |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Bone marrow biopsy shows increased numbers of normal to small megakaryocytes |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Enlarged platelets |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Platelets have decreased alpha-granules |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Decreased platelet function |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Normal platelet aggregation studies |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Dyserythropoiesis in bone marrow (1 patient) |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Decreased number of small megakaryocytes (1 patient) |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Mild reticulocytosis in carrier females |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Low-normal platelet count in carrier females |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Decreased UROS activity (1 patient) |
|
|
|
|
1 / 7739
|
28
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|