1
|
(HPO:0001178)
|
Ulnar claw |
|
|
|
|
8 / 7739
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
5
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
6
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
7
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
8
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
9
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
10
|
(HPO:0003387)
|
Decreased number of large peripheral myelinated nerve fibers |
|
|
|
|
11 / 7739
|
11
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
12
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
13
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
14
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
15
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
16
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
17
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
18
|
(OMIM)
|
Normal early motor milestones |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Lower and upper limb muscle weakness due to peripheral neuropathy |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Lower and upper limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Clumsy gait |
|
|
|
|
3 / 7739
|
22
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
23
|
(OMIM)
|
Neuropathic changes seen on EMG |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Normal to decreased nerve conduction velocities (NCV) |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Loss of large myelinated fibers seen on nerve biopsy |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Regenerating axons |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Thin myelination |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Occasional early 'onion' bulb formations |
|
|
|
|
1 / 7739
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
30
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|