|
1
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
10
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
11
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
12
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
13
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
14
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
15
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
16
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
17
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
18
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
19
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
20
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
21
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
22
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
23
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
24
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
25
|
(OMIM)
|
Autonomic involvement may occur |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Axonal dystrophy |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Axonal swelling or thickening |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Axonal 'spheroid' inclusions |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
High voltage, fast rhythms seen on EEG |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Cerebellar atrophy with signal hyperintensity in the cerebellar cortex seen on T2-weighted MRI |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Increased iron deposition in the basal ganglia |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Thin optic chiasm |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Chronic denervation seen on EMG |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva |
|
|
|
|
1 / 7739
|