Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
3
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
4
 (HPO:0001903) Anemia Occasional [Orphanet] Rare [HPO:curators] 289 / 7739
5
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
6
 (HPO:0001999) Abnormal facial shape Occasional [Orphanet] 169 / 7739
7
 (HPO:0001882) Leukopenia Occasional [Orphanet] 51 / 7739
8
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
9
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
10
 (HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
11
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
12
 (HPO:0011227) Elevated C-reactive protein level Occasional [Orphanet] 55 / 7739
13
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
14
 (HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
15
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
16
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
17
 (HPO:0010628) Facial palsy Occasional [Orphanet] 146 / 7739
18
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
19
 (HPO:0001063) Acrocyanosis Occasional [Orphanet] 56 / 7739
20
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
21
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
22
 (HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
23
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 15894597 IBIS 281 / 7739
24
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
25
 (HPO:0002857) Genu valgum Occasional [Orphanet] 15894597 IBIS 144 / 7739
26
 (HPO:0002039) Anorexia Occasional [Orphanet] 62 / 7739
27
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
28
 (HPO:0000520) Proptosis Occasional [Orphanet] 15894597 IBIS 192 / 7739
29
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
30
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
31
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
32
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
33
 (HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
34
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 15894597 IBIS 539 / 7739
35
 (HPO:0000823) Delayed puberty 15894597 IBIS 65 / 7739
36
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
37
 (HPO:0001519) Disproportionate tall stature Occasional [Orphanet] 39 / 7739
38
 (HPO:0100774) Hyperostosis Very frequent [Orphanet] 17 / 7739
39
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
40
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
41
 (HPO:0003307) Hyperlordosis Occasional [Orphanet] 122 / 7739
42
 (HPO:0009125) Lipodystrophy Occasional [Orphanet] 54 / 7739
43
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
44
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
45
 (HPO:0000303) Mandibular prognathia 179 / 7739
46
 (HPO:0000651) Diplopia 15894597 IBIS 37 / 7739
47
 (HPO:0003758) Reduced subcutaneous adipose tissue 15894597 IBIS 27 / 7739
48
 (HPO:0001533) Slender build 15894597 IBIS 11 / 7739
49
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
50
 (HPO:0002315) Headache 15894597 IBIS 175 / 7739
51
 (HPO:0002515) Waddling gait 56 / 7739
52
 (HPO:0002694) Sclerosis of skull base 15894597 IBIS 10 / 7739
53
 (HPO:0003034) Diaphyseal sclerosis 10 / 7739
54
 (HPO:0003388) Easy fatigability 15894597 IBIS 34 / 7739
55
 (HPO:0004396) Poor appetite 15894597 IBIS 7 / 7739
56
 (HPO:0005528) Bone marrow hypocellularity 31 / 7739
57
 (HPO:0005791) Cortical thickening of long bone diaphyses 15894597 IBIS 2 / 7739
58
 (HPO:0007807) Optic nerve compression 6 / 7739
59
 (HPO:0009763) Limb pain 15894597 IBIS 7 / 7739
60
 (OMIM) Mandible involvement 1 / 7739
61
 (OMIM) Sclerosis of posterior part of vertebrae (body and arches) 1 / 7739
62
 (OMIM) Progressive diaphyseal widening 1 / 7739
63
 (OMIM) Thickened cortex 2 / 7739
64
 (OMIM) Narrowing of medullary canal 1 / 7739
65
 (OMIM) Erlenmeyer flask defect 1 / 7739
66
 (OMIM) Genu varus deformity 1 / 7739
67
 (OMIM) Genu valgum deformity 1 / 7739
68
 (OMIM) Relative muscle weakness, especially in pelvic girdle 1 / 7739
69
 (OMIM) Atrophic muscle fiber on biopsy 1 / 7739
70
 (HPO:0003474) Sensory impairment Occasional [Orphanet] 54 / 7739
71
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
72
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
73
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
74
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
75
 (HPO:0003621) Juvenile onset 105 / 7739