1
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
2
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
3
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
4
|
(HPO:0001072)
|
Thickened skin |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
5
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
6
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
7
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
8
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
10
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
11
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
12
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
13
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
14
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
15
|
(HPO:0100769)
|
Synovitis |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
16
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
17
|
(HPO:0011362)
|
Abnormal hair quantity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
18
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
19
|
(HPO:0000168)
|
Abnormality of the gingiva |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
20
|
(HPO:0001031)
|
Subcutaneous lipoma |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
21
|
(HPO:0001171)
|
Split hand |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
22
|
(HPO:0012471)
|
Thick vermilion border |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
24
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
25
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
26
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
27
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
28
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
29
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
30
|
(HPO:0000446)
|
Narrow nasal bridge |
|
|
|
|
29 / 7739
|
31
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
32
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
33
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
34
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
35
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
36
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
37
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
|
|
22 / 7739
|
38
|
(HPO:0001220)
|
Interphalangeal joint contracture of finger |
|
|
|
|
5 / 7739
|
39
|
(HPO:0001239)
|
Wrist flexion contracture |
|
|
|
|
13 / 7739
|
40
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
41
|
(HPO:0001473)
|
Metatarsal osteolysis |
|
|
|
|
2 / 7739
|
42
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
43
|
(HPO:0001482)
|
Subcutaneous nodule |
|
|
|
|
17 / 7739
|
44
|
(HPO:0001495)
|
Carpal osteolysis |
|
|
|
|
3 / 7739
|
45
|
(HPO:0001504)
|
Metacarpal osteolysis |
|
|
|
|
3 / 7739
|
46
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
47
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
48
|
(HPO:0001783)
|
Broad metatarsal |
|
|
|
|
9 / 7739
|
49
|
(HPO:0001836)
|
Camptodactyly of toe |
|
|
|
|
27 / 7739
|
50
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
51
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
52
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
|
|
14 / 7739
|
53
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
54
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
55
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
56
|
(HPO:0003320)
|
C1-C2 subluxation |
|
|
|
|
5 / 7739
|
57
|
(HPO:0003493)
|
Antinuclear antibody positivity |
|
|
|
|
15 / 7739
|
58
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
59
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
60
|
(HPO:0005441)
|
Sclerotic cranial sutures |
|
|
|
|
1 / 7739
|
61
|
(HPO:0006012)
|
Widened metacarpal shaft |
|
|
|
|
3 / 7739
|
62
|
(HPO:0006086)
|
Thin metacarpal cortices |
|
|
|
|
2 / 7739
|
63
|
(HPO:0006234)
|
Osteolysis involving tarsal bones |
|
|
|
|
3 / 7739
|
64
|
(HPO:0006252)
|
Interphalangeal joint erosions |
|
|
|
|
2 / 7739
|
65
|
(HPO:0006466)
|
Ankle contracture |
|
|
|
|
17 / 7739
|
66
|
(HPO:0008011)
|
Peripheral opacification of the cornea |
|
|
|
|
1 / 7739
|
67
|
(HPO:0008078)
|
Thin metatarsal cortices |
|
|
|
|
2 / 7739
|
68
|
(HPO:0008090)
|
Ankylosis of feet small joints |
|
|
|
|
1 / 7739
|
69
|
(HPO:0008133)
|
Distal tapering of metatarsals |
|
|
|
|
1 / 7739
|