|
1
|
(HPO:0004437)
|
Cranial hyperostosis |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
4
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Occasional [Orphanet]
|
|
|
|
110 / 7739
|
|
5
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
6
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
7
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
8
|
(HPO:0011073)
|
Abnormality of dental color |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
11
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
12
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
13
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
|
14
|
(HPO:0003063)
|
Abnormality of the humerus |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
15
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
16
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
17
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
18
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
19
|
(HPO:0004220)
|
Short middle phalanx of the 5th finger |
|
|
|
|
17 / 7739
|
|
20
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
21
|
(HPO:0005625)
|
Osteoporosis of vertebrae |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0005877)
|
Multiple small vertebral fractures |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
|
24
|
(HPO:0009577)
|
Short middle phalanx of the 2nd finger |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0010047)
|
Short 5th metacarpal |
|
|
|
|
8 / 7739
|
|
26
|
(OMIM)
|
Enlarged sternal ends of clavicles |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Flared metaphyses with thin cortex and osteoporosis, esp |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
proximal humerus, distal femur and proximal tibia |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Short middle phalanx of fingers 2 and 5 |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Dystrophic yellowish teeth |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
32
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|