|
1
|
(HPO:0001384)
|
Abnormality of the hip joint |
|
|
|
|
1 / 7739
|
|
2
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
3
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0002758)
|
Osteoarthritis |
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003502)
|
Mild short stature |
|
|
|
|
19 / 7739
|
|
7
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
8
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
9
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|
|
10
|
(HPO:0010585)
|
Small epiphyses |
|
|
|
|
16 / 7739
|
|
11
|
(OMIM)
|
Irregular, small epiphyses |
|
|
|
|
6 / 7739
|
|
12
|
(OMIM)
|
Late ossifying epiphyses |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Normal hands |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Mild variability in muscle fiber size |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|