|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
23084291
|
IBIS
|
208 / 7739
|
|
2
|
(HPO:0001266)
|
Choreoathetosis |
|
|
23084291
|
IBIS
|
57 / 7739
|
|
3
|
(HPO:0001332)
|
Dystonia |
|
|
23084291
|
IBIS
|
197 / 7739
|
|
4
|
(HPO:0001510)
|
Growth delay |
|
|
23084291
|
IBIS
|
295 / 7739
|
|
5
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
23084291
|
IBIS
|
281 / 7739
|
|
6
|
(HPO:0100660)
|
Dyskinesia |
|
|
23084291
|
IBIS
|
19 / 7739
|
|
7
|
(OMIM)
|
Liver shows mitochondrial respiratory chain deficiencies of complexes III and IV |
|
|
23084291
|
IBIS
|
1 / 7739
|
|
8
|
(OMIM)
|
Muscle biopsy shows peripheral accumulation of abnormal mitochondria |
|
|
23084291
|
IBIS
|
1 / 7739
|
|
9
|
(OMIM)
|
Encephalomyopathy |
|
|
23084291
|
IBIS
|
2 / 7739
|
|
10
|
(OMIM)
|
Motor regression |
|
|
23084291
|
IBIS
|
3 / 7739
|
|
11
|
(OMIM)
|
Inability to sit or stand independently |
|
|
23084291
|
IBIS
|
1 / 7739
|
|
12
|
(OMIM)
|
Inability to hold head up |
|
|
23084291
|
IBIS
|
2 / 7739
|
|
13
|
(OMIM)
|
Lack of speech |
|
|
23084291
|
IBIS
|
17 / 7739
|
|
14
|
(OMIM)
|
Loss of purposeful hand movements |
|
|
23084291
|
IBIS
|
2 / 7739
|
|
15
|
(OMIM)
|
T2-weighted hyperintensities in the putamen and caudate nuclei |
|
|
23084291
|
IBIS
|
1 / 7739
|
|
16
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
23084291
|
IBIS
|
36 / 7739
|
|
17
|
(OMIM)
|
Increased serum and CSF lactate |
|
|
23084291
|
IBIS
|
7 / 7739
|
|
18
|
(HPO:0001344)
|
Absent speech |
|
|
23084291
|
IBIS
|
57 / 7739
|
|
19
|
(MedDRA:10058799)
|
Mitochondrial encephalomyopathy |
|
|
23084291
|
IBIS
|
5 / 7739
|
|
20
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
23084291
|
IBIS
|
51 / 7739
|
|
21
|
(HPO:0001324)
|
Muscle weakness |
|
|
23084291
|
IBIS
|
859 / 7739
|
|
22
|
(OMIM)
|
No head control |
|
|
23084291
|
IBIS
|
2 / 7739
|
|
23
|
(HPO:0002421)
|
Poor head control |
|
|
23084291
|
IBIS
|
23 / 7739
|
|
24
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
23084291
|
IBIS
|
77 / 7739
|
|
25
|
(HPO:0200125)
|
Mitochondrial respiratory chain defects |
|
|
23084291
|
IBIS
|
6 / 7739
|
|
26
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
23084291
|
IBIS
|
990 / 7739
|
|
27
|
(HPO:0002013)
|
Vomiting |
|
|
23084291
|
IBIS
|
191 / 7739
|
|
28
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
23084291
|
IBIS
|
153 / 7739
|
|
29
|
(HPO:0002151)
|
Increased serum lactate |
|
|
23084291
|
IBIS
|
92 / 7739
|
|
30
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
23084291
|
IBIS
|
28 / 7739
|
|
31
|
(HPO:0012103)
|
Abnormality of the mitochondrion |
|
|
23084291
|
IBIS
|
7 / 7739
|
|
32
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
23084291
|
IBIS
|
12 / 7739
|
|
33
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
|
|
23084291
|
IBIS
|
14 / 7739
|
|
34
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
23084291
|
IBIS
|
22 / 7739
|
|
35
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
23084291
|
IBIS
|
31 / 7739
|
|
36
|
(HPO:0011922)
|
Abnormal activity of mitochondrial respiratory chain |
|
|
23084291
|
IBIS
|
1 / 7739
|
|
37
|
(HPO:0001263)
|
Global developmental delay |
|
|
23084291
|
IBIS
|
853 / 7739
|
|
38
|
(HPO:0002015)
|
Dysphagia |
|
|
23084291
|
IBIS
|
301 / 7739
|
|
39
|
(HPO:0011471)
|
Gastrostomy tube feeding in infancy |
|
|
23084291
|
IBIS
|
3 / 7739
|
|
40
|
(HPO:0001298)
|
Encephalopathy |
|
|
23084291
|
IBIS
|
72 / 7739
|