|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
3
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
4
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
5
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
6
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
|
|
37 / 7739
|
|
8
|
(OMIM)
|
Hearing loss, progressive, starting in infancy |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Visual impairment, progressive, starting early childhood |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Fine horizontal nystagmus |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Attenuation of retinal vessels |
|
|
|
|
5 / 7739
|
|
12
|
(OMIM)
|
Bull's eye maculae |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Diffuse pigmentary stippling of peripheral retina |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Hallucinations, visual, precipitated by infectious illness (in some patients) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Repetitive eye blinking accompanying visual hallucinations (in some patients) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Patellar tendon reflexes hyperactive |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Truncal ataxia, mild |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
19
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
20
|
(OMIM)
|
Nonsensical speech accompanying visual hallucinations (in some patients) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Inappropriate laughter accompanying visual hallucinations (in some patients) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Psychomotor agitation accompanying visual hallucinations (in some patients) |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|