|
1
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
2
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
3
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
4
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
5
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
7
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
8
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
10
|
(OMIM)
|
Deafness, sensorineural, variable |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Ankle sprains |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
13
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
14
|
(OMIM)
|
Lower limbs most affected |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
16
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
17
|
(OMIM)
|
Hypo- or areflexia |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Normal or mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
15 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
20
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|