1
|
(HPO:0001178)
|
Ulnar claw |
|
|
|
|
8 / 7739
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
5
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
6
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
7
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
8
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
9
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
10
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
11
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
12
|
(HPO:0007267)
|
Chronic axonal neuropathy |
|
|
|
|
5 / 7739
|
13
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
14
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
15
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
16
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
17
|
(OMIM)
|
Normal or mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
15 / 7739
|
18
|
(OMIM)
|
Sural nerve biopsy shows chronic axonal neuropathy |
|
|
|
|
3 / 7739
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|