|
1
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
3
|
(HPO:0000765)
|
Abnormality of the thorax |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
4
|
(HPO:0000929)
|
Abnormality of the skull |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
5
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
8
|
(HPO:0002894)
|
Neoplasm of the pancreas |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0003011)
|
Abnormality of the musculature |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
10
|
(HPO:0003072)
|
Hypercalcemia |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
11
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
12
|
(HPO:0005107)
|
Abnormality of the sacrum |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
13
|
(HPO:0005214)
|
Intestinal obstruction |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
14
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
15
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
16
|
(HPO:0100526)
|
Neoplasm of the lung |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
17
|
(HPO:0012062)
|
Bone cyst |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
18
|
(HPO:0100835)
|
Benign neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
20
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
21
|
(HPO:0000271)
|
Abnormality of the face |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
22
|
(HPO:0002250)
|
Abnormality of the large intestine |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
23
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
|
24
|
(HPO:0030426)
|
Ossifying fibroma |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0030448)
|
Soft tissue sarcoma |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
26
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
27
|
(HPO:0000168)
|
Abnormality of the gingiva |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
28
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
30
|
(HPO:0003549)
|
Abnormality of connective tissue |
|
|
|
|
22 / 7739
|
|
31
|
(HPO:0010614)
|
Fibroma |
|
|
|
|
10 / 7739
|