|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001349)
|
Facial diplegia |
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
8
|
(HPO:0002134)
|
Abnormality of the basal ganglia |
|
|
|
|
13 / 7739
|
|
9
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
|
|
37 / 7739
|
|
10
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
11
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
12
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
13
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
14
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
15
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
16
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
17
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
18
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
19
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
20
|
(HPO:0008945)
|
Loss of ability to walk in early childhood |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
|
|
34 / 7739
|
|
22
|
(HPO:0009141)
|
Depletion of mitochondrial DNA in muscle tissue |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
24
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
25
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
26
|
(HPO:0002540)
|
Inability to walk |
|
|
|
|
19 / 7739
|
|
27
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
28
|
(OMIM)
|
Muscle biopsy shows ragged red fibers |
|
|
|
|
4 / 7739
|
|
29
|
(OMIM)
|
Skeletal muscle tissue shows 14 to 45% depletion of mitochondrial DNA (mtDNA) |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
31
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
32
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
33
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|