|
1
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0001315)
|
Reduced tendon reflexes |
Occasional [Orphanet]
|
|
|
|
160 / 7739
|
|
4
|
(HPO:0000995)
|
Melanocytic nevus |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
|
5
|
(HPO:0006660)
|
Aplastic clavicles |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
6
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
7
|
(HPO:0003045)
|
Abnormality of the patella |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0002818)
|
Abnormality of the radius |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
11
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
12
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
13
|
(MedDRA:10003694)
|
Atrophy |
|
|
|
|
7 / 7739
|
|
14
|
(OMIM)
|
Compensatory hypertrophy |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|