|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
4
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
|
|
27 / 7739
|
|
5
|
(HPO:0009064)
|
Generalized lipodystrophy |
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0009125)
|
Lipodystrophy |
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0003502)
|
Mild short stature |
|
|
|
|
19 / 7739
|
|
8
|
(OMIM)
|
Cutaneous nodules at distal interphalangeal joints (in some patients) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Thick, indurated skin over entire body |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Diffuse entrapment neuropathy (in some patients) |
|
|
|
|
1 / 7739
|