|
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:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
6
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0003387)
|
Decreased number of large peripheral myelinated nerve fibers |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0003444)
|
EMG: chronic denervation signs |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
10
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
11
|
(HPO:0007078)
|
Decreased amplitude of sensory action potentials |
|
|
|
|
5 / 7739
|
|
12
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
13
|
(OMIM)
|
Progresses to involve upper distal limb muscles |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Proximal muscle involvement rarely occurs |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Normal motor nerve conduction velocities |
|
|
|
|
6 / 7739
|
|
16
|
(OMIM)
|
Decreased or absent sensory nerve action potentials |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
EMG shows denervation and fibrillation potentials |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Nerve biopsy shows axonal neuropathy |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Thin myelinated axons |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|