|
1
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|
|
2
|
(HPO:0000408)
|
Progressive sensorineural hearing impairment |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
4
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0000751)
|
Personality changes |
|
|
|
|
33 / 7739
|
|
6
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
8
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
|
9
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
10
|
(HPO:0002446)
|
Astrocytosis |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0005102)
|
Cochlear degeneration |
|
|
|
|
5 / 7739
|
|
12
|
(HPO:0007164)
|
Slowed slurred speech |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0011153)
|
Focal motor seizures |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Audiograms consistent with progressive cochlear degeneration |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Small foci of interstitial chronic renal inflammation |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Vacuolation and PAS-positive cytoplasmic granules in renal tubules |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Diffuse neuronal degeneration and astrocytosis of brain |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased cerebellar granule cells |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Decreased neurons in dentate and inferior olivary nuclei |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Progressive nerve deafness |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|