|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
4
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
5
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0003378)
|
Axonal degeneration/regeneration |
|
|
|
|
12 / 7739
|
|
8
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0003484)
|
Upper limb muscle weakness |
|
|
|
|
19 / 7739
|
|
10
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
11
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
12
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
13
|
(OMIM)
|
Normal to mildly decreased nerve conduction velocities (NCV) (39-40 m/s) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Axonal degeneration/regeneration on nerve biopsy |
|
|
|
|
10 / 7739
|
|
15
|
(OMIM)
|
Loss of myelinated fibers on nerve biopsy |
|
|
|
|
6 / 7739
|
|
16
|
(OMIM)
|
Upper limb involvement may occur later |
|
|
|
|
10 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|