|
1
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
2
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
4
|
(OMIM)
|
Recurrent hemorrhagic events |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Abnormal platelets with giant morphology |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Megakaryocytes show ultrastructural defects with abnormal membranes |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Neutrophil membranes show absence of sialyl-Lewis-X |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Platelets show decreased GPIb |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Normal transferrin isoelectric profile |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|