1
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
4
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
5
|
(HPO:0001761)
|
Pes cavus |
Very frequent [Orphanet]
|
|
|
|
225 / 7739
|
6
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
7
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
8
|
(HPO:0001337)
|
Tremor |
Occasional [Orphanet]
|
|
|
|
200 / 7739
|
9
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
10
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
11
|
(HPO:0010488)
|
Aplasia/Hypoplasia of the palmar creases |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
12
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
13
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
14
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
15
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
16
|
(HPO:0007021)
|
Pain insensitivity |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
17
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
18
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
19
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
20
|
(HPO:0001272)
|
Cerebellar atrophy |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
21
|
(HPO:0001310)
|
Dysmetria |
rare [HPO:skoehler]
|
|
|
|
76 / 7739
|
22
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
23
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
24
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
25
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
26
|
(HPO:0002385)
|
Paraparesis |
|
|
|
|
12 / 7739
|
27
|
(HPO:0002395)
|
Lower limb hyperreflexia |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
28
|
(HPO:0002427)
|
Motor aphasia |
|
|
|
|
2 / 7739
|
29
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
30
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
31
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
32
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
33
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
34
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
35
|
(HPO:0003487)
|
Babinski sign |
rare [HPO:skoehler]
|
|
|
|
179 / 7739
|
36
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
37
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
38
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
39
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
40
|
(OMIM)
|
Muscle biopsy showed neurogenic changes |
|
|
|
|
2 / 7739
|
41
|
(OMIM)
|
Fiber size variation |
|
|
|
|
3 / 7739
|
42
|
(OMIM)
|
Type 1 fiber predominance |
|
|
|
|
9 / 7739
|
43
|
(OMIM)
|
Central nervous system involvement may occur |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Transient, reversible neurologic deficits |
|
|
|
|
1 / 7739
|
45
|
(MedDRA:10027925)
|
Monoparesis |
|
|
|
|
1 / 7739
|
46
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
47
|
(HPO:0003474)
|
Sensory impairment |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
48
|
(OMIM)
|
White matter abnormalities on MRI which resolve over time |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
50
|
(OMIM)
|
Difficulty walking on heels |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Normal NCV |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Loss of myelinated fibers on nerve biopsy |
|
|
|
|
6 / 7739
|
53
|
(OMIM)
|
Axonal degeneration |
|
|
|
|
7 / 7739
|
54
|
(OMIM)
|
Regenerative nerve sprouting Thin myelin sheaths |
|
|
|
|
1 / 7739
|
55
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
56
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
57
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|
58
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
59
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
60
|
(HPO:0002311)
|
Incoordination |
rare [HPO:skoehler]
|
|
|
|
84 / 7739
|
61
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
62
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
63
|
(HPO:0040078)
|
Axonal degeneration |
|
|
|
|
10 / 7739
|
64
|
(HPO:0040083)
|
Toe walking |
|
|
|
|
15 / 7739
|