|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
4
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
5
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
6
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
8
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
9
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|
|
10
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
11
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
12
|
(OMIM)
|
Upper limb involvement may occur |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Recurrent falls |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Neuropathic pain |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Distal sensory impairment, variable |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Normal or mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
15 / 7739
|
|
17
|
(OMIM)
|
Sural nerve biopsy shows axonal degenerative process |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
20
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|