|
1
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
2
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
3
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
4
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
5
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0002754)
|
Osteomyelitis |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
8
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
9
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
10
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
11
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
12
|
(HPO:0100716)
|
Self-injurious behavior |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
13
|
(HPO:0007021)
|
Pain insensitivity |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
14
|
(HPO:0001226)
|
Acral ulceration and osteomyelitis leading to autoamputation of digits |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
16
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
|
18
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
19
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
20
|
(HPO:0003146)
|
Hypocholesterolemia |
|
|
|
|
9 / 7739
|
|
21
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
22
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
23
|
(HPO:0003563)
|
Hypobetalipoproteinemia |
|
|
|
|
9 / 7739
|
|
24
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
25
|
(HPO:0006827)
|
Atrophy of the spinal cord |
|
|
|
|
5 / 7739
|
|
26
|
(HPO:0006984)
|
Distal sensory loss of all modalities |
|
|
|
|
5 / 7739
|
|
27
|
(OMIM)
|
Distal ulceration and osteomyelitis leading to autoamputation |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0001155)
|
Abnormality of the hand |
|
|
|
|
54 / 7739
|
|
29
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy, mild |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
|
31
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
32
|
(OMIM)
|
Normal or mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
15 / 7739
|
|
33
|
(OMIM)
|
MRI shows atrophy of the spinal cord |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Decreased plasma apolipoprotein B (APOB, 107730) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Decreased plasma triglycerides |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Decreased plasma total cholesterol |
|
|
|
|
1 / 7739
|