|
1
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001604)
|
Vocal cord paresis |
rare [HPO:skoehler]
|
|
|
|
8 / 7739
|
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
9
|
(HPO:0003387)
|
Decreased number of large peripheral myelinated nerve fibers |
|
|
|
|
11 / 7739
|
|
10
|
(HPO:0003400)
|
Basal lamina 'onion bulb' formation |
|
|
|
|
3 / 7739
|
|
11
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
13
|
(HPO:0010871)
|
Sensory ataxia |
rare [HPO:skoehler]
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
|
15
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
16
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
17
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
18
|
(OMIM)
|
Distal lower limb muscle weakness due to peripheral neuropathy |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Distal lower limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Distal upper limb involvement may occur later |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Proximal lower limb involvement |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Sural nerve biopsy shows demyelination |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Focal myelin thickening |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Focally folded myelin |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|