Symptom Information: Sort according to HPO 

1
(HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
2
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
3
(HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
4
(HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
5
(HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
6
(HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
7
(HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
8
(HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
9
(HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
10
(HPO:0002758) Osteoarthritis Occasional [Orphanet] 78 / 7739
11
(HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
12
(HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
13
(HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
14
(HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
15
(HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
16
(HPO:0000124) Renal tubular dysfunction Occasional [Orphanet] 46 / 7739
17
(HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
18
(HPO:0001876) Pancytopenia Frequent [Orphanet] 89 / 7739
19
(HPO:0002716) Lymphadenopathy Very frequent [Orphanet] 129 / 7739
20
(HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
21
(HPO:0012145) Abnormality of multiple cell lineages in the bone marrow Occasional [Orphanet] 11 / 7739
22
(HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
23
(HPO:0001291) Abnormality of the cranial nerves Very frequent [Orphanet] 27 / 7739
24
(HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
25
(HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
26
(HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
27
(HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
28
(HPO:0006824) Cranial nerve paralysis Very frequent [Orphanet] 81 / 7739
29
(HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
30
(HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
31
(HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
32
(HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
33
(HPO:0002754) Osteomyelitis Very frequent [Orphanet] 37 / 7739
34
(HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
35
(HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
36
(HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
37
(HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
38
(HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
39
(HPO:0100734) Abnormality of vertebral epiphysis morphology Very frequent [Orphanet] 4 / 7739
40
(HPO:0000765) Abnormality of the thorax Very frequent [Orphanet] 64 / 7739
41
(HPO:0001882) Leukopenia Frequent [Orphanet] 51 / 7739
42
(HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
43
(HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
44
(HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
45
(HPO:0002148) Hypophosphatemia Very frequent [Orphanet] 43 / 7739
46
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739