|
1
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
|
2
|
(HPO:0004437)
|
Cranial hyperostosis |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0000826)
|
Precocious puberty |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
5
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
7
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
8
|
(HPO:0000974)
|
Hyperextensible skin |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
11
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
12
|
(HPO:0005978)
|
Type II diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
13
|
(HPO:0008221)
|
Adrenal hyperplasia |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
14
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
15
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
16
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
17
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
18
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
19
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
|
20
|
(HPO:0001507)
|
Growth abnormality |
|
|
|
|
36 / 7739
|
|
21
|
(HPO:0001833)
|
Long foot |
|
|
|
|
33 / 7739
|
|
22
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
23
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
24
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
25
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
26
|
(HPO:0003309)
|
Ovoid thoracolumbar vertebrae |
|
|
|
|
6 / 7739
|
|
27
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
28
|
(HPO:0003799)
|
Marked delay in bone age |
|
|
|
|
5 / 7739
|
|
29
|
(HPO:0004558)
|
Cervical platyspondyly |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0004629)
|
Small cervical vertebral bodies |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0004684)
|
Talipes valgus |
|
|
|
|
28 / 7739
|
|
32
|
(HPO:0005833)
|
Joint swelling onset late infancy |
|
|
|
|
2 / 7739
|
|
33
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
34
|
(HPO:0007517)
|
Palmoplantar cutis laxa |
|
|
|
|
9 / 7739
|
|
35
|
(HPO:0007574)
|
Generalized bronze hyperpigmentation |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0008476)
|
Irregular sclerotic endplates |
|
|
|
|
3 / 7739
|
|
37
|
(HPO:0008833)
|
Irregular acetabular roof |
|
|
|
|
3 / 7739
|
|
38
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
39
|
(HPO:0012412)
|
Premature adrenarche |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Birth weight normal |
|
|
|
|
14 / 7739
|
|
41
|
(OMIM)
|
Disproportionately large ears |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Normal hearing |
|
|
|
|
9 / 7739
|
|
43
|
(OMIM)
|
Thick maxilla |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Thick ethmoid bones |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Thick mandibular condyles |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Small, flat cervical vertebrae |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Flat, irregular acetabular roofs |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Failure of ossification of pubic bones, ischii, triradiate cartilages |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Short, deformed tubular bones |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Irregular metaphyseal ossification |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Sclerotic metaphyseal changes |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Ankle valgus deformity |
|
|
|
|
2 / 7739
|
|
53
|
(OMIM)
|
Cutis laxa, hands and feet (present at birth) |
|
|
|
|
1 / 7739
|
|
54
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
55
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
56
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
57
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
58
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
59
|
(HPO:0001578)
|
Hypercortisolism |
|
|
|
|
17 / 7739
|
|
60
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|