|
1
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
6
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
|
|
61 / 7739
|
|
7
|
(HPO:0007834)
|
Progressive cataract |
|
|
|
|
3 / 7739
|
|
8
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
9
|
(OMIM)
|
Cochleosaccular dysplasia of inner ear |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|