|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
|
|
34 / 7739
|
|
3
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
4
|
(HPO:0001155)
|
Abnormality of the hand |
|
|
|
|
54 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
7
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
8
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
9
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0003447)
|
Axonal loss |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0003481)
|
Segmental peripheral demyelination/remyelination |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
14
|
(HPO:0004696)
|
Talipes cavus equinovarus |
|
|
|
|
13 / 7739
|
|
15
|
(HPO:0006916)
|
Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0006958)
|
Abnormal auditory evoked potentials |
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
18
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
19
|
(OMIM)
|
Severely reduced nerve conduction velocities (NCV) (may become unattainable) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
'Onion bulbs' on nerve biopsy |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Segmental demyelination/remyelination on nerve biopsy |
|
|
|
|
9 / 7739
|
|
22
|
(OMIM)
|
Abnormal brainstem auditory evoked potentials, suggesting demyelination |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|