Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0011001) Increased bone mineral density Frequent [Orphanet] 78 / 7739
3
 (HPO:0011002) Osteopetrosis Frequent [Orphanet] typical [HPO] 19 / 7739
4
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
5
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
6
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
7
 (HPO:0000789) Infertility Frequent [Orphanet] 74 / 7739
8
 (MedDRA:10040808) Skin cancer Occasional [Orphanet] 2 / 7739
9
 (MedDRA:10004398) Benign neoplasm of skin Occasional [Orphanet] 2 / 7739
10
 (HPO:0001838) Rocker bottom foot Frequent [Orphanet] 85 / 7739
11
 (HPO:0000765) Abnormality of the thorax Very frequent [Orphanet] 64 / 7739
12
 (HPO:0100615) Ovarian neoplasm Occasional [Orphanet] 25 / 7739
13
 (HPO:0100679) Lack of skin elasticity Frequent [Orphanet] 29 / 7739
14
 (MedDRA:10043744) Thyroid neoplasm Occasional [Orphanet] 2 / 7739
15
 (MedDRA:10066474) Thyroid cancer Occasional [Orphanet] 6 / 7739
16
 (MedDRA:10004412) Benign neoplasm of thyroid gland Occasional [Orphanet] 2 / 7739
17
 (HPO:0100648) Neoplasm of the tongue Occasional [Orphanet] 2 / 7739
18
 (HPO:0100649) Neoplasm of the oral cavity Occasional [Orphanet] 20 / 7739
19
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
20
 (HPO:0009815) Aplasia/hypoplasia of the extremities Very frequent [Orphanet] 6 / 7739
21
 (HPO:0003777) Pili torti Very frequent [Orphanet] 24 / 7739
22
 (HPO:0007378) Neoplasm of the gastrointestinal tract Occasional [Orphanet] 11 / 7739
23
 (HPO:0100723) Gastrointestinal stroma tumor Occasional [Orphanet] 7 / 7739
24
 (HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 7739
25
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
26
 (HPO:0004334) Dermal atrophy Frequent [Orphanet] 34 / 7739
27
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
28
 (HPO:0003002) Breast carcinoma Occasional [Orphanet] 23 / 7739
29
 (HPO:0100013) Neoplasm of the breast Occasional [Orphanet] 18 / 7739
30
 (HPO:0001642) Pulmonic stenosis Frequent [Orphanet] 89 / 7739
31
 (HPO:0004415) Pulmonary artery stenosis Frequent [Orphanet] 25 / 7739
32
 (HPO:0004935) Pulmonary artery atresia Frequent [Orphanet] 12 / 7739
33
 (HPO:0004960) Absent pulmonary artery Frequent [Orphanet] 5 / 7739
34
 (HPO:0004971) Pulmonary artery hypoplasia Frequent [Orphanet] 15 / 7739
35
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
36
 (HPO:0003560) Muscular dystrophy Frequent [Orphanet] 88 / 7739
37
 (HPO:0003700) Generalized amyotrophy Frequent [Orphanet] typical [HPO] 39 / 7739
38
 (HPO:0100295) Muscle fiber atrophy Frequent [Orphanet] typical [HPO] 22 / 7739
39
 (HPO:0100854) Aplasia of the musculature Frequent [Orphanet] 7 / 7739
40
 (HPO:0002211) White forelock Very frequent [Orphanet] 18 / 7739
41
 (HPO:0007544) Piebaldism Very frequent [Orphanet] 3 / 7739
42
 (HPO:0011365) Patchy hypopigmentation of hair Very frequent [Orphanet] hallmark [HPO] 8 / 7739
43
 (HPO:0001658) Myocardial infarction Frequent [Orphanet] 30 / 7739
44
 (HPO:0001681) Angina pectoris Frequent [Orphanet] 22 / 7739
45
 (HPO:0001581) Recurrent skin infections Frequent [Orphanet] 9 / 7739
46
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
47
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
48
 (HPO:0000275) Narrow face Frequent [Orphanet] 76 / 7739
49
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
50
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
51
 (HPO:0002289) Alopecia universalis Very frequent [Orphanet] 20 / 7739
52
 (HPO:0004528) Generalized hypotrichosis Very frequent [Orphanet] 18 / 7739
53
 (HPO:0001009) Telangiectasia Frequent [Orphanet] typical [HPO] 46 / 7739
54
 (HPO:0100585) Telangiectasia of the skin Frequent [Orphanet] 66 / 7739
55
 (HPO:0100526) Neoplasm of the lung Occasional [Orphanet] 26 / 7739
56
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
57
 (HPO:0002621) Atherosclerosis Very frequent [Orphanet] 33 / 7739
58
 (HPO:0004416) Precocious atherosclerosis Very frequent [Orphanet] 12 / 7739
59
 (HPO:0005177) Premature arteriosclerosis Very frequent [Orphanet] 7 / 7739
60
 (HPO:0002858) Meningioma Occasional [Orphanet] 22 / 7739
61
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
62
 (HPO:0001611) Nasal speech Frequent [Orphanet] 48 / 7739
63
 (HPO:0008376) Nasal, dysarthic speech Frequent [Orphanet] 8 / 7739
64
 (HPO:0100271) Hyponasal speech Frequent [Orphanet] 7 / 7739
65
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
66
 (HPO:0005595) Generalized hyperkeratosis Frequent [Orphanet] typical [HPO] 14 / 7739
67
 (HPO:0000819) Diabetes mellitus Frequent [Orphanet] 131 / 7739
68
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
69
 (HPO:0100638) Neoplasm of the pharynx Occasional [Orphanet] 2 / 7739
70
 (MedDRA:10026696) Malignant small intestinal neoplasm NOS Occasional [Orphanet] 1 / 7739
71
 (HPO:0200055) Small hand Frequent [Orphanet] 71 / 7739
72
 (Orphanet:46720) Periarticular tissue anomaly/extraarticular calcifications Frequent [Orphanet] 2 / 7739
73
 (HPO:0000135) Hypogonadism Frequent [Orphanet] 89 / 7739
74
 (HPO:0000823) Delayed puberty Frequent [Orphanet] 65 / 7739
75
 (HPO:0000938) Osteopenia Frequent [Orphanet] 138 / 7739
76
 (HPO:0000939) Osteoporosis Frequent [Orphanet] 129 / 7739
77
 (HPO:0002748) Rickets Frequent [Orphanet] 41 / 7739
78
 (HPO:0002749) Osteomalacia Frequent [Orphanet] 24 / 7739
79
 (HPO:0006462) Generalized bone demineralization Frequent [Orphanet] 11 / 7739
80
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
81
 (HPO:0000869) Secondary amenorrhea Occasional [Orphanet] 42 / 7739
82
 (HPO:0100805) Precocious menopause Occasional [Orphanet] 4 / 7739
83
 (MedDRA:10037469) Pulse absent Frequent [Orphanet] 1 / 7739
84
 (HPO:0001635) Congestive heart failure Frequent [Orphanet] 232 / 7739
85
 (HPO:0003510) Severe short stature Very frequent [Orphanet] 90 / 7739
86
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
87
 (HPO:0002209) Sparse scalp hair Very frequent [Orphanet] 59 / 7739
88
 (HPO:0007552) Abnormal subcutaneous fat tissue distribution Frequent [Orphanet] 12 / 7739
89
 (HPO:0009064) Generalized lipodystrophy Frequent [Orphanet] 17 / 7739
90
 (HPO:0009125) Lipodystrophy Frequent [Orphanet] 54 / 7739
91
 (HPO:0100659) Abnormality of the cerebral vasculature Occasional [Orphanet] 25 / 7739
92
 (HPO:0009726) Renal neoplasm Occasional [Orphanet] 20 / 7739
93
 (HPO:0000144) Decreased fertility Frequent [Orphanet] 11 / 7739
94
 (HPO:0000276) Long face 109 / 7739
95
 (HPO:0000546) Retinal degeneration 61 / 7739
96
 (HPO:0000934) Chondrocalcinosis Frequent [Orphanet] 13 / 7739
97
 (HPO:0001376) Limitation of joint mobility Occasional [Orphanet] 27 / 7739
98
 (HPO:0001595) Abnormality of the hair 89 / 7739
99
 (HPO:0001677) Coronary artery disease Frequent [Orphanet] 58 / 7739
100
 (HPO:0002669) Osteosarcoma 12 / 7739
101
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
102
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
103
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
104
 (HPO:0005328) Progeroid facial appearance 13 / 7739
105
 (HPO:0007618) Subcutaneous calcification 2 / 7739
106
 (HPO:0007703) Abnormality of retinal pigmentation Frequent [Orphanet] 21 / 7739
107
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
108
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
109
 (HPO:0010721) Abnormal hair whorl Very frequent [Orphanet] 3 / 7739
110
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
111
 (HPO:0100031) Neoplasm of the thyroid gland Occasional [Orphanet] 15 / 7739
112
 (HPO:0100833) Neoplasm of the small intestine Occasional [Orphanet] 5 / 7739
113
 (OMIM) Stocky trunk 1 / 7739
114
 (OMIM) Slender limbs 1 / 7739
115
 (OMIM) Scleroderma-like skin, especially of face and distal extremities 1 / 7739
116
 (OMIM) Ulceration 1 / 7739
117
 (OMIM) Thin, sparse, gray 1 / 7739
118
 (OMIM) Premature balding 1 / 7739
119
 (OMIM) Malignancy in approximately 10% 1 / 7739
120
 (OMIM) Osteosarcoma and meningioma especially 1 / 7739
121
 (OMIM) Variegated translocation mosaicism in cultured fibroblasts 1 / 7739
122
 (OMIM) Poor mitogenic response to growth factors 1 / 7739