|
1
|
(HPO:0001155)
|
Abnormality of the hand |
|
|
|
|
54 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0003387)
|
Decreased number of large peripheral myelinated nerve fibers |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
9
|
(HPO:0003450)
|
Axonal regeneration |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0007182)
|
Peripheral hypomyelination |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
12
|
(OMIM)
|
Proximal lower limb muscle weakness, later (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Prominent sensory loss, distal |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Distal limb paralysis |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Increased threshold for electrical stimulation |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Thin myelin sheaths |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Hypomyelination on nerve biopsy |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|