|
1
|
(HPO:0000764)
|
Peripheral axonal degeneration |
|
|
|
|
6 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0001765)
|
Hammertoe |
rare [HPO:skoehler]
|
|
|
|
63 / 7739
|
|
6
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
8
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
10
|
(HPO:0006886)
|
Impaired distal vibration sensation |
|
|
|
|
8 / 7739
|
|
11
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
12
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
13
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
14
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
15
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
16
|
(OMIM)
|
Muscle cramping |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Loss of ability to run due to lower limb weakness |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Difficulty in heel-to-toe walking |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Axonal sensorimotor neuropathy |
|
|
|
|
6 / 7739
|
|
20
|
(OMIM)
|
Sural nerve biopsy shows axonal degeneration |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Nerve conduction velocities only slightly decreased |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|