1
|
(HPO:0011276)
|
Vascular skin abnormality |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
2
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
3
|
(HPO:0000853)
|
Goiter |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
5
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
6
|
(HPO:0100631)
|
Neoplasm of the adrenal gland |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
7
|
(HPO:0100615)
|
Ovarian neoplasm |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
8
|
(HPO:0100733)
|
Neoplasm of the parathyroid gland |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
9
|
(HPO:0005701)
|
Multiple enchondromatosis |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
10
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
12
|
(HPO:0002653)
|
Bone pain |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
13
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
14
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
15
|
(HPO:0100021)
|
Cerebral palsy |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
16
|
(HPO:0100242)
|
Sarcoma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
17
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
18
|
(HPO:0100559)
|
Lower limb asymmetry |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
19
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
20
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
21
|
(HPO:0100777)
|
Exostoses |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
22
|
(HPO:0004936)
|
Venous thrombosis |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
23
|
(HPO:0100013)
|
Neoplasm of the breast |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
24
|
(HPO:0001367)
|
Abnormal joint morphology |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
25
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
26
|
(HPO:0011750)
|
Neoplasm of the anterior pituitary |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
27
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|