|
1
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
4
|
(HPO:0001604)
|
Vocal cord paresis |
|
|
|
|
8 / 7739
|
|
5
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
6
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
7
|
(HPO:0008443)
|
Spinal deformities |
|
|
|
|
5 / 7739
|
|
8
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
9
|
(OMIM)
|
Severe distal sensory loss |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Normal or mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
15 / 7739
|
|
11
|
(OMIM)
|
Axonal degeneration/regeneration on nerve biopsy |
|
|
|
|
10 / 7739
|
|
12
|
(OMIM)
|
Decreased number of myelinated fibers |
|
|
|
|
6 / 7739
|
|
13
|
(OMIM)
|
Occasional onion bulb formations |
|
|
|
|
1 / 7739
|