|
1
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
2
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
5
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
6
|
(HPO:0001882)
|
Leukopenia |
|
|
|
|
51 / 7739
|
|
7
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
8
|
(HPO:0001978)
|
Extramedullary hematopoiesis |
|
|
|
|
6 / 7739
|
|
9
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
10
|
(HPO:0010702)
|
Increased antibody level in blood |
|
|
|
|
29 / 7739
|
|
11
|
(OMIM)
|
Enlarged kidneys due to extramedullary hematopoiesis |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Nucleated red cells in peripheral blood |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Bone marrow fibrosis |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Bone marrow shows abnormal development of neutrophils |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Recurrent infections, bacterial and fungal |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Neutrophil dysfunction |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|