|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
26089585
|
IBIS
|
206 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0001761)
|
Pes cavus |
Very frequent [Orphanet]
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0001337)
|
Tremor |
Occasional [Orphanet]
|
|
|
|
200 / 7739
|
|
8
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
26089585
|
IBIS
|
318 / 7739
|
|
9
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
10
|
(HPO:0010488)
|
Aplasia/Hypoplasia of the palmar creases |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
11
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
12
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
13
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
14
|
(HPO:0007021)
|
Pain insensitivity |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
15
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
18
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
19
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
20
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
21
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
22
|
(HPO:0002522)
|
Areflexia of lower limbs |
|
|
|
|
16 / 7739
|
|
23
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
24
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
25
|
(HPO:0003481)
|
Segmental peripheral demyelination/remyelination |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
27
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
28
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
29
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
|
30
|
(HPO:0003474)
|
Sensory impairment |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
31
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
26089585
|
IBIS
|
23 / 7739
|
|
32
|
(HPO:0000399)
|
Prelingual sensorineural hearing impairment |
|
|
26089585
|
IBIS
|
8 / 7739
|
|
33
|
(HPO:0001138)
|
Optic neuropathy |
|
|
26089585
|
IBIS
|
12 / 7739
|
|
34
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
26089585
|
IBIS
|
51 / 7739
|
|
35
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
26089585
|
IBIS
|
21 / 7739
|