|
1
|
(HPO:0001257)
|
Spasticity |
occasional [HPO:skoehler]
|
|
|
|
251 / 7739
|
|
2
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
4
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
5
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
7
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
8
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
10
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
12
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
13
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
14
|
(OMIM)
|
Slow paraparetic gait |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Mild pyramidal signs (variable expression) |
|
|
|
|
4 / 7739
|
|
16
|
(OMIM)
|
Brisk tendon reflexes |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
18
|
(OMIM)
|
Spasticity may be present |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Spastic dysphonia |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
21
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
22
|
(OMIM)
|
Normal or mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
15 / 7739
|
|
23
|
(OMIM)
|
Nerve biopsy often consistent with axonal neuropathy |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|
|
26
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
27
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
28
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
29
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|