|
1
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
2
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
3
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
8
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
9
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
13
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
14
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
15
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
16
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
17
|
(HPO:0003737)
|
Mitochondrial myopathy |
|
|
|
|
18 / 7739
|
|
18
|
(HPO:0005978)
|
Type II diabetes mellitus |
|
|
|
|
68 / 7739
|
|
19
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
20
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
|
|
31 / 7739
|
|
21
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
|
22
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
23
|
(HPO:0012507)
|
Weakness of orbicularis oculi muscle |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
25
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
26
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
27
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
28
|
(OMIM)
|
Muscle biopsy shows ragged-red fibers with decreased COX activity |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Decreased activity of complex I and complex IV |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Muscle shows lipid accumulation |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Mitochondria show paracrystalline inclusions |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Intellectual delay |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0100651)
|
Type I diabetes mellitus |
|
|
|
|
44 / 7739
|