|
1
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
3
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0001348)
|
Brisk reflexes |
|
|
|
|
15 / 7739
|
|
5
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
6
|
(HPO:0002273)
|
Tetraparesis |
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
9
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
10
|
(HPO:0003090)
|
Hypoplasia of the capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
11
|
(HPO:0003304)
|
Spondylolysis |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0003414)
|
Atlantoaxial dislocation |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
15
|
([DEL]HPO:0004893)
|
progressive respiratory failure |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0005667)
|
Os odontoideum |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0008489)
|
Spondylolisthesis at L5-S1 |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0009130)
|
Hand muscle atrophy |
|
|
|
|
11 / 7739
|
|
19
|
(HPO:0011448)
|
Ankle clonus |
|
|
|
|
31 / 7739
|
|
20
|
(OMIM)
|
Joint laxity, mild |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Irregular vertebral end plates |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Os odontoideum and atlanto-axial instability |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Flat femoral head with subluxation and sloping acetabulum |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Clonus in legs |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|