|
1
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
2
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
4
|
(HPO:0002208)
|
Coarse hair |
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
7
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0007495)
|
Prematurely aged appearance |
|
|
|
|
44 / 7739
|
|
10
|
(HPO:0007602)
|
Complex palmar dermatoglyphic pattern |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Macroepiphyses |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Prominent joints |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Dry coarse hair |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Wrinkled palms |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Aged appearance |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|