|
1
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
rare [HPO:skoehler]
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0001268)
|
Mental deterioration |
rare [HPO:skoehler]
|
|
|
|
88 / 7739
|
|
7
|
(HPO:0001337)
|
Tremor |
rare [HPO:skoehler]
|
|
|
|
200 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
Occasional [HPO:curators]
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
10
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
11
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
12
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
13
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0003378)
|
Axonal degeneration/regeneration |
|
|
|
|
12 / 7739
|
|
18
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
19
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
20
|
(HPO:0003384)
|
Peripheral axonal atrophy |
|
|
|
|
5 / 7739
|
|
21
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
22
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
23
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
24
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
25
|
(HPO:0012531)
|
Pain |
|
|
|
|
9 / 7739
|
|
26
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
27
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
28
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
29
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
30
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
31
|
(OMIM)
|
Pyramidal features |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Fatal subacute encephalopathy (1 family) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
34
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
35
|
(OMIM)
|
Predominant loss of pain and temperature sensation |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Less severe loss of vibration and position sensation |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
38
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
39
|
(OMIM)
|
Normal or mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
15 / 7739
|
|
40
|
(OMIM)
|
Absent nerve conduction velocities (in those with early onset) |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Axonal atrophy on nerve biopsy |
|
|
|
|
5 / 7739
|
|
42
|
(OMIM)
|
Axonal degeneration/regeneration on nerve biopsy |
|
|
|
|
10 / 7739
|
|
43
|
(OMIM)
|
Small 'onion bulbs' may be present |
|
|
|
|
4 / 7739
|
|
44
|
(OMIM)
|
Decreased number of myelinated fibers may be found |
|
|
|
|
5 / 7739
|
|
45
|
(OMIM)
|
Mitochondrial abnormalities in nerve biopsy |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
47
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
48
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
49
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
50
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|