|
1
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
5
|
(HPO:0007021)
|
Pain insensitivity |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
6
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
8
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
9
|
(HPO:0000642)
|
Red-green dyschromatopsia |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
10
|
(HPO:0000408)
|
Progressive sensorineural hearing impairment |
|
|
|
|
28 / 7739
|
|
11
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
|
|
26 / 7739
|
|
12
|
(HPO:0002522)
|
Areflexia of lower limbs |
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
14
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
15
|
(OMIM)
|
Nerve conduction velocities may be normal or mildly decreased |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|