|
1
|
(HPO:0001250)
|
Seizures |
variable [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
3
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001336)
|
Myoclonus |
rare [HPO:skoehler]
|
|
|
|
115 / 7739
|
|
5
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
6
|
(HPO:0001337)
|
Tremor |
rare [HPO:skoehler]
|
|
|
|
200 / 7739
|
|
7
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
8
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
9
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
10
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
12
|
(HPO:0012240)
|
Increased intramyocellular lipid droplets |
|
|
|
|
7 / 7739
|
|
13
|
(OMIM)
|
Talus valgus |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
15
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
18
|
(OMIM)
|
Decreased coenzyme Q |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Decreased activity of respiratory complex II+III |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Decreased activity of respiratory complex I+III |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Muscle biopsy shows mitochondrial aggregates |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Muscle biopsy shows lipid droplets |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0007256)
|
Abnormal pyramidal signs |
rare [HPO:skoehler]
|
|
|
|
116 / 7739
|
|
24
|
(OMIM)
|
Delayed development, variable (in some patients) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Mental retardation, variable |
|
|
|
|
7 / 7739
|
|
26
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
27
|
(OMIM)
|
Increased serum and CSF lactate |
|
|
|
|
7 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
29
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|