|
1
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0000820)
|
Abnormality of the thyroid gland |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
3
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
7
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
8
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
9
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0002997)
|
Abnormality of the ulna |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
13
|
(HPO:0003063)
|
Abnormality of the humerus |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
17
|
(HPO:0002818)
|
Abnormality of the radius |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
18
|
(HPO:0000696)
|
Delayed eruption of permanent teeth |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0003177)
|
Squared iliac bones |
|
|
|
|
7 / 7739
|
|
20
|
(HPO:0003440)
|
Horizontal sacrum |
|
|
|
|
5 / 7739
|
|
21
|
(HPO:0004490)
|
Calvarial hyperostosis |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
|
22
|
(HPO:0010538)
|
Small sella turcica |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
23
|
(OMIM)
|
Enlarged thyroid gland |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Abnormally shaped ribs or clavicles (rare) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Calcified falx cerebri (in some patients) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Lumbar lordosis, pronounced |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Embedded vertebral body L5 |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Malformation of vertebral column (rare) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Square iliac wings |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Anterior bowing of diaphyses of tibiae |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Anterior bowing of diaphyses of fibulae |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Broadening or 'tibialization' of fibulae |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Posterior cortical thickening of tibiae |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Posterior cortical thickening of fibulae |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Diaphyseal changes of long bones, mild |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Mental retardation, variable degree (in some patients) |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
38
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
39
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|