|
1
|
(HPO:0000096)
|
Glomerulosclerosis |
|
|
|
|
11 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
5
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
6
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
7
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
8
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
9
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
13
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
15
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
16
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
18
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
19
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
20
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
21
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
22
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
|
|
17 / 7739
|
|
23
|
(OMIM)
|
Podocyte effacement |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Abnormal mitochondria in podocytes |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Exertional fatigue |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Lipid accumulation |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Decreased coenzyme Q10 content |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Decreased levels of coenzyme Q10 in skeletal muscle (5-35%) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Decreased activity of coenzyme Q10-dependent respiratory chain complexes |
|
|
|
|
1 / 7739
|