Symptom Information: Sort according to HPO 

1
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] hallmark [HPO] 78 / 7739
2
 (HPO:0011002) Osteopetrosis Very frequent [Orphanet] hallmark [HPO] 19 / 7739
3
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
4
 (HPO:0000618) Blindness Very frequent [Orphanet] 124 / 7739
5
 (HPO:0000646) Amblyopia Very frequent [Orphanet] 42 / 7739
6
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] hallmark [HPO] 46 / 7739
7
 (HPO:0001022) Albinism Very frequent [Orphanet] 43 / 7739
8
 (HPO:0007513) Generalized hypopigmentation Very frequent [Orphanet] 12 / 7739
9
 (HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
10
 (HPO:0010562) Keloids Occasional [Orphanet] 11 / 7739
11
 (HPO:0001482) Subcutaneous nodule Occasional [Orphanet] 17 / 7739
12
 (HPO:0000940) Abnormal diaphysis morphology Occasional [Orphanet] 41 / 7739
13
 (HPO:0100252) Diaphyseal dysplasia Occasional [Orphanet] occasional [HPO] 4 / 7739
14
 (HPO:0010289) Alveolar ridge cleft Occasional [Orphanet] 2 / 7739
15
 (HPO:0100335) Non-midline cleft lip Occasional [Orphanet] 12 / 7739
16
 (HPO:0003191) Cleft ala nasi Occasional [Orphanet] 8 / 7739
17
 (HPO:0001369) Arthritis Occasional [Orphanet] 44 / 7739
18
 (HPO:0002758) Osteoarthritis Occasional [Orphanet] occasional [HPO] 78 / 7739
19
 (HPO:0005059) Arthralgia/arthritis Occasional [Orphanet] occasional [HPO] 141 / 7739
20
 (HPO:0100769) Synovitis Occasional [Orphanet] 86 / 7739
21
 (HPO:0002829) Arthralgia Occasional [Orphanet] 79 / 7739
22
 (HPO:0000678) Dental crowding Very frequent [Orphanet] 65 / 7739
23
 (HPO:0000706) Unerupted tooth Very frequent [Orphanet] 10 / 7739
24
 (HPO:0011079) Impacted tooth Very frequent [Orphanet] 3 / 7739
25
 (HPO:0000972) Palmoplantar hyperkeratosis Occasional [Orphanet] occasional [HPO] 41 / 7739
26
 (HPO:0000982) Palmoplantar keratoderma Occasional [Orphanet] 40 / 7739
27
 (HPO:0007447) Diffuse palmoplantar hyperkeratosis Occasional [Orphanet] occasional [HPO] 8 / 7739
28
 (HPO:0100651) Type I diabetes mellitus Occasional [Orphanet] 44 / 7739
29
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
30
 (HPO:0001611) Nasal speech Very frequent [Orphanet] 48 / 7739
31
 (HPO:0008376) Nasal, dysarthic speech Very frequent [Orphanet] 8 / 7739
32
 (HPO:0100271) Hyponasal speech Very frequent [Orphanet] 7 / 7739
33
 (HPO:0000211) Trismus Occasional [Orphanet] 9 / 7739
34
 (HPO:0001281) Tetany Occasional [Orphanet] 20 / 7739
35
 (HPO:0001371) Flexion contracture Occasional [Orphanet] 220 / 7739
36
 (HPO:0002179) Opisthotonus Occasional [Orphanet] 35 / 7739
37
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
38
 (HPO:0003739) Myoclonic spasms Occasional [Orphanet] 7 / 7739
39
 (HPO:0004417) Intermittent claudication Occasional [Orphanet] 10 / 7739
40
 (HPO:0000819) Diabetes mellitus Very frequent [Orphanet] 131 / 7739
41
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
42
 (HPO:0000943) Dysostosis multiplex Very frequent [Orphanet] 22 / 7739
43
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] hallmark [HPO] 113 / 7739
44
 (HPO:0005701) Multiple enchondromatosis Very frequent [Orphanet] 11 / 7739
45
 (HPO:0010885) Aseptic necrosis Very frequent [Orphanet] 24 / 7739
46
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
47
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
48
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
49
 (HPO:0002757) Recurrent fractures Occasional [Orphanet] 47 / 7739
50
 (HPO:0100242) Sarcoma Very frequent [Orphanet] 27 / 7739
51
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
52
 (HPO:0100774) Hyperostosis Very frequent [Orphanet] 17 / 7739
53
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
54
 (HPO:0003764) Nevus Occasional [Orphanet] occasional [HPO] 17 / 7739
55
 (HPO:0007481) Hyperpigmented nevi Occasional [Orphanet] occasional [HPO] 6 / 7739
56
 (HPO:0003510) Severe short stature Very frequent [Orphanet] 90 / 7739
57
 (HPO:0004322) Short stature Very frequent [Orphanet] hallmark [HPO] 1232 / 7739
58
 (HPO:0001680) Coarctation of aorta Very frequent [Orphanet] 57 / 7739
59
 (HPO:0005113) Dilatation of the aortic arch Very frequent [Orphanet] 12 / 7739
60
 (HPO:0011611) Interrupted aortic arch Very frequent [Orphanet] 10 / 7739
61
 (HPO:0000246) Sinusitis Very frequent [Orphanet] 73 / 7739
62
 (HPO:0012384) Rhinitis Very frequent [Orphanet] 18 / 7739
63
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
64
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
65
 (HPO:0100255) Metaphyseal dysplasia Very frequent [Orphanet] hallmark [HPO] 26 / 7739
66
 (HPO:0100721) Mediastinal lymphadenopathy Frequent [Orphanet] 19 / 7739
67
 (HPO:0001056) Milia Very frequent [Orphanet] 24 / 7739
68
 (HPO:0200034) Papule Very frequent [Orphanet] 12 / 7739
69
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
70
 (HPO:0000252) Microcephaly 832 / 7739
71
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
72
 (HPO:0000987) Atypical scarring of skin Occasional [Orphanet] 58 / 7739
73
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
74
 (HPO:0005684) Distal arthrogryposis 31 / 7739
75
 (HPO:0001387) Joint stiffness 322 / 7739
76
 (HPO:0001609) Hoarse voice 34 / 7739
77
 (HPO:0001679) Abnormality of the aorta Very frequent [Orphanet] 5 / 7739
78
 (HPO:0010739) Osteopoikilosis 2 / 7739
79
 (HPO:0100542) Abnormal localization of kidney 64 / 7739
80
 (OMIM) Osteopoikilosis ('spotted bones') typically located in epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula 2 / 7739
81
 (OMIM) Melorheostosis, typically affect diaphyses (less common) 2 / 7739
82
 (OMIM) Subcutaneous nontender firm nodules 2 / 7739
83
 (OMIM) Subcutaneous connective tissue nevi 2 / 7739
84
 (OMIM) Elastin-rich connective tissue nevi (elastoma) 2 / 7739
85
 (OMIM) Collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata) 2 / 7739