|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0002991)
|
Abnormality of the fibula |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
3
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
4
|
(HPO:0000691)
|
Microdontia |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
6
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0006482)
|
Abnormality of dental morphology |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
9
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
10
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
11
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
12
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
13
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
14
|
(HPO:0000787)
|
Nephrolithiasis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
15
|
(HPO:0000925)
|
Abnormality of the vertebral column |
|
|
|
|
20 / 7739
|
|
16
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
17
|
(HPO:0003072)
|
Hypercalcemia |
|
|
|
|
36 / 7739
|
|
18
|
(OMIM)
|
Thickened wrists proximal to styloid process of ulna |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
20
|
(HPO:0005059)
|
Arthralgia/arthritis |
|
|
|
|
141 / 7739
|
|
21
|
(OMIM)
|
Noncalcified cone-like cartilaginous islands protruding into the metaphysis |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Thickening ('roofing') of the dorsum sellae |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Variable dysplasia of metatarsals, metacarpals and distal fibula |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Slightly elevated serum calcium |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|