|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
4
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
5
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
6
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
7
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
8
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
9
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
11
|
(HPO:0003444)
|
EMG: chronic denervation signs |
|
|
|
|
5 / 7739
|
|
12
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
13
|
(HPO:0006886)
|
Impaired distal vibration sensation |
|
|
|
|
8 / 7739
|
|
14
|
(HPO:0006937)
|
Impaired distal tactile sensation |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
16
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
17
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
18
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
19
|
(OMIM)
|
Distal sensory loss of tactile and vibratory senses |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
EMG shows chronic denervation |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Sural nerve biopsy shows occasional onion bulb formations |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Normal or mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
15 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|