1
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
25240982
|
IBIS
|
266 / 7739
|
2
|
(HPO:0000572)
|
Visual loss |
|
|
23266623
|
IBIS
|
272 / 7739
|
3
|
(HPO:0000639)
|
Nystagmus |
|
|
20953793
|
IBIS
|
555 / 7739
|
4
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
23266623
|
IBIS
|
78 / 7739
|
5
|
(HPO:0001250)
|
Seizures |
|
|
20953793
|
IBIS
|
1245 / 7739
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
25240982
|
IBIS
|
413 / 7739
|
7
|
(HPO:0002066)
|
Gait ataxia |
|
|
23266623
|
IBIS
|
327 / 7739
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
23266623
|
IBIS
|
853 / 7739
|
9
|
(HPO:0003737)
|
Mitochondrial myopathy |
|
|
23266623
|
IBIS
|
18 / 7739
|
10
|
(HPO:0007814)
|
Retinal pigment epithelial mottling |
|
|
10676807
|
IBIS
|
5 / 7739
|
11
|
(OMIM)
|
Muscle mitochondria normal by histochemical analysis |
|
|
23266623
|
IBIS
|
1 / 7739
|
12
|
(OMIM)
|
No histochemical evidence of mitochondrial myopathy. |
|
|
23266623
|
IBIS
|
1 / 7739
|
13
|
(HPO:0003572)
|
Low plasma citrulline |
|
|
25240982
|
IBIS
|
7 / 7739
|
14
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
25240982
|
IBIS
|
17 / 7739
|
15
|
(HPO:0011098)
|
Speech apraxia |
|
|
25240982
|
IBIS
|
9 / 7739
|
16
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
23266623
|
IBIS
|
197 / 7739
|
17
|
(HPO:0007366)
|
Atrophy/Degeneration affecting the brainstem |
|
|
25746071
|
IBIS
|
4 / 7739
|
18
|
(HPO:0006799)
|
Basal ganglia cysts |
|
|
20953793
|
IBIS
|
6 / 7739
|
19
|
(HPO:0007007)
|
Cavitation of the basal ganglia |
|
|
20953793
|
IBIS
|
2 / 7739
|
20
|
(OMIM)
|
T2-weighted hyperintensities in the basal ganglia |
|
|
20953793
|
IBIS
|
2 / 7739
|
21
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
20953793
|
IBIS
|
27 / 7739
|
22
|
(HPO:0000716)
|
Depression |
|
|
20953793
|
IBIS
|
99 / 7739
|
23
|
(HPO:0007371)
|
Corpus callosum atrophy |
|
|
20953793
|
IBIS
|
14 / 7739
|
24
|
(HPO:0012444)
|
Brain atrophy |
|
|
20953793
|
IBIS
|
24 / 7739
|
25
|
(HPO:0011504)
|
Bull's eye maculopathy |
|
|
10676807
|
IBIS
|
8 / 7739
|
26
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
25746071
|
IBIS
|
35 / 7739
|
27
|
(HPO:0000365)
|
Hearing impairment |
|
|
9221962
|
IBIS
|
539 / 7739
|
28
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
25746071
|
IBIS
|
34 / 7739
|
29
|
(HPO:0007703)
|
Abnormality of retinal pigmentation |
|
|
23266623
|
IBIS
|
21 / 7739
|