|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
4
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
7
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
9
|
(HPO:0003798)
|
Nemaline bodies |
|
|
|
|
12 / 7739
|
|
10
|
(HPO:0004571)
|
Widening of cervical spinal canal |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0004575)
|
Fusion of midcervical facet joints |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0005185)
|
Global systolic dysfunction |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0005986)
|
Limitation of neck motion |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0008483)
|
Cervical vertebral bodies with decreased anteroposterior diameter |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Dyspnea, progressive |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Type I fibers with large, irregularly polygonal congophilic hyaline masses and nemaline rods consistent with nonlysosomal protein degradation |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Mild distal sensory deficits |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
EMG shows fibrillation potentials and mixed myopathic and neurogenic motor unit potentials |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|