|
1
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
2
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
3
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
4
|
(HPO:0002366)
|
Abnormal lower motor neuron morphology |
|
|
|
|
12 / 7739
|
|
5
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
6
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
9
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
10
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
11
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
12
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
13
|
(HPO:0003697)
|
Scapuloperoneal amyotrophy |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
15
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
|
16
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
17
|
(OMIM)
|
Contractures, hand and finger muscles |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Distal muscle atrophy due to denervation |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Scapuloperoneal muscular atrophy due to denervation |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Distal muscle weakness and atrophy due to motor neuronopathy |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Difficulty walking and climbing stairs |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
EMG shows neurogenic changes and denervation |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Normal mental development |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Normal sensation |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Sural nerve biopsy shows normal findings |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
27
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|
|
28
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|