|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
6
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0003484)
|
Upper limb muscle weakness |
|
|
|
|
19 / 7739
|
|
13
|
(HPO:0008944)
|
Distal lower limb amyotrophy |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0009053)
|
Distal lower limb muscle weakness |
|
|
|
|
13 / 7739
|
|
15
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
|
16
|
(OMIM)
|
Distal lower limb muscle weakness due to peripheral neuropathy |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Distal lower limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Upper limb involvement may occur later |
|
|
|
|
10 / 7739
|
|
19
|
(OMIM)
|
Nerve biopsy shows demyelination/remyelination |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Nerve biopsy shows 'onion bulb' formations |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Nerve biopsy shows decreased number of myelinated fibers |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|