Symptom Information: Sort according to HPO 

1
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
2
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
3
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
4
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
5
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
6
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
7
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
8
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
9
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
10
 (HPO:0001873) Thrombocytopenia 224 / 7739
11
 (HPO:0001882) Leukopenia rare [HPO:skoehler] 51 / 7739
12
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
13
 (HPO:0005505) Refractory anemia 2 / 7739
14
 (HPO:0005528) Bone marrow hypocellularity 31 / 7739
15
 (HPO:0005890) Hyperostosis cranialis interna Rare [HPO:skoehler] 2 / 7739
16
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
17
 (HPO:0011001) Increased bone mineral density 78 / 7739
18
 (HPO:0011974) Myelofibrosis 6 / 7739
19
 (HPO:0100252) Diaphyseal dysplasia 4 / 7739
20
 (OMIM) Thick long bones of the extremities 1 / 7739
21
 (OMIM) Wide diaphyseal medullary cavities 1 / 7739
22
 (OMIM) Cortical hyperostosis 3 / 7739
23
 (OMIM) Anemia, corticosteroid-sensitive 1 / 7739
24
 (HPO:0001876) Pancytopenia 89 / 7739
25
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
26
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (HPO:0003812) Phenotypic variability 129 / 7739