1
|
(HPO:0001257)
|
Spasticity |
rare [HPO:skoehler]
|
|
|
|
251 / 7739
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
5
|
(HPO:0001347)
|
Hyperreflexia |
rare [HPO:skoehler]
|
|
|
|
363 / 7739
|
6
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
7
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
8
|
(HPO:0001385)
|
Hip dysplasia |
rare [HPO:skoehler]
|
|
|
|
242 / 7739
|
9
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
10
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
11
|
(HPO:0002380)
|
Fasciculations |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
12
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
13
|
(HPO:0003273)
|
Hip contracture |
rare [HPO:skoehler]
|
|
|
|
30 / 7739
|
14
|
(HPO:0003307)
|
Hyperlordosis |
rare [HPO:skoehler]
|
|
|
|
122 / 7739
|
15
|
(HPO:0003327)
|
Axial muscle weakness |
|
|
|
|
10 / 7739
|
16
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
17
|
(HPO:0003691)
|
Scapular winging |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|
18
|
(HPO:0006380)
|
Knee flexion contracture |
rare [HPO:skoehler]
|
|
|
|
56 / 7739
|
19
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|
20
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
21
|
(OMIM)
|
Muscle weakness, proximal and distal |
|
|
|
|
2 / 7739
|
22
|
(OMIM)
|
Muscle atrophy, proximal and distal |
|
|
|
|
3 / 7739
|
23
|
(OMIM)
|
Neurogenic abnormalities seen on EMG |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Groups of atrophic fibers seen on muscle biopsy (type I fiber predominance) |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Upper motor signs |
|
|
|
|
2 / 7739
|
26
|
(OMIM)
|
Loss of motor neurons in the anterior horn of the spinal cord |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Distal hyporeflexia |
|
|
|
|
2 / 7739
|
28
|
(OMIM)
|
Areflexia, distal |
|
|
|
|
2 / 7739
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
30
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
31
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
32
|
(HPO:0040083)
|
Toe walking |
|
|
|
|
15 / 7739
|