|
1
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
2
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
3
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
6
|
(HPO:0003438)
|
Absent Achilles reflex |
|
|
|
|
9 / 7739
|
|
7
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
8
|
(HPO:0007083)
|
Hyperactive patellar reflex |
|
|
|
|
4 / 7739
|
|
9
|
(HPO:0007350)
|
Hyperreflexia in upper limbs |
|
|
|
|
5 / 7739
|
|
10
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
11
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
12
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
13
|
(OMIM)
|
Pyramidal features |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Brisk Hoffman and palmo-mental reflexes |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Normal motor nerve conduction velocities |
|
|
|
|
6 / 7739
|
|
16
|
(OMIM)
|
Loss of myelinated fibers on nerve biopsy |
|
|
|
|
6 / 7739
|
|
17
|
(OMIM)
|
Thin myelin sheaths |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Rare axonal regeneration |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|