|
1
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Very frequent [IBIS]
|
100% (n=5)
|
23849775
|
IBIS
|
137 / 7739
|
|
2
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
Very frequent [IBIS]
|
100% (n=4)
|
23849775
|
IBIS
|
35 / 7739
|
|
3
|
(HPO:0002151)
|
Increased serum lactate |
Frequent [IBIS]
|
80% (n=5)
|
23849775
|
IBIS
|
92 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
Frequent [IBIS]
|
60% (n=5)
|
23849775
|
IBIS
|
853 / 7739
|
|
5
|
(HPO:0001635)
|
Congestive heart failure |
Frequent [IBIS]
|
60% (n=5)
|
23849775
|
IBIS
|
232 / 7739
|
|
6
|
(HPO:0003128)
|
Lactic acidosis |
Frequent [IBIS]
|
60% (n=5)
|
23849775
|
IBIS
|
116 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
60% (n=5)
|
23849775
|
IBIS
|
990 / 7739
|
|
8
|
(HPO:0008947)
|
Infantile muscular hypotonia |
Frequent [IBIS]
|
60% (n=5)
|
23849775
|
IBIS
|
482 / 7739
|
|
9
|
(HPO:0003348)
|
Hyperalaninemia |
Frequent [IBIS]
|
60% (n=5)
|
23849775
|
IBIS
|
19 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [IBIS]
|
40% (n=5)
|
23849775
|
IBIS
|
358 / 7739
|
|
11
|
(HPO:0003218)
|
Oroticaciduria |
Frequent [IBIS]
|
40% (n=5)
|
23849775
|
IBIS
|
10 / 7739
|
|
12
|
(HPO:0003217)
|
Hyperglutaminemia |
Frequent [IBIS]
|
40% (n=5)
|
23849775
|
IBIS
|
9 / 7739
|
|
13
|
(MedDRA:10050757)
|
Creatinine urine increased |
Frequent [IBIS]
|
40% (n=5)
|
23849775
|
IBIS
|
1 / 7739
|
|
14
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
Occasional [IBIS]
|
25% (n=4)
|
23849775
|
IBIS
|
31 / 7739
|
|
15
|
(HPO:0000252)
|
Microcephaly |
Occasional [IBIS]
rare [HPO:skoehler]
|
20% (n=5)
|
23849775
|
IBIS
|
832 / 7739
|
|
16
|
(HPO:0000365)
|
Hearing impairment |
Occasional [IBIS]
rare [HPO:skoehler]
|
20% (n=5)
|
23849775
|
IBIS
|
539 / 7739
|
|
17
|
(HPO:0001508)
|
Failure to thrive |
Occasional [IBIS]
|
20% (n=5)
|
23849775
|
IBIS
|
454 / 7739
|
|
18
|
(HPO:0001510)
|
Growth delay |
Occasional [IBIS]
|
20% (n=5)
|
23849775
|
IBIS
|
295 / 7739
|
|
19
|
(HPO:0001700)
|
Myocardial necrosis |
Occasional [IBIS]
|
20% (n=5)
|
23849775
|
IBIS
|
6 / 7739
|
|
20
|
(HPO:0002015)
|
Dysphagia |
Occasional [IBIS]
|
20% (n=5)
|
23849775
|
IBIS
|
301 / 7739
|
|
21
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [IBIS]
|
20% (n=5)
|
23849775
|
IBIS
|
524 / 7739
|
|
22
|
(HPO:0002134)
|
Abnormality of the basal ganglia |
Occasional [IBIS]
|
20% (n=5)
|
23849775
|
IBIS
|
13 / 7739
|
|
23
|
(OMIM)
|
COX-deficient fibers |
Occasional [IBIS]
|
20% (n=5)
|
23849775
|
IBIS
|
3 / 7739
|
|
24
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
Occasional [IBIS]
|
20% (n=5)
|
23849775
|
IBIS
|
20 / 7739
|
|
25
|
(HPO:0001942)
|
Metabolic acidosis |
Occasional [IBIS]
|
20% (n=5)
|
23849775
|
IBIS
|
81 / 7739
|
|
26
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Occasional [IBIS]
|
20% (n=5)
|
23849775
|
IBIS
|
141 / 7739
|
|
27
|
(OMIM)
|
Heart biopsy shows enlarged mitochondrial with abnormal cristae (rare) |
|
|
23849775
|
IBIS
|
1 / 7739
|
|
28
|
(OMIM)
|
Decreased mitochondrial complex IV activity (in some patients) |
|
|
23849775
|
IBIS
|
1 / 7739
|
|
29
|
(OMIM)
|
Hyperintensities in the basal ganglia (rare) |
|
|
23849775
|
IBIS
|
1 / 7739
|
|
30
|
(OMIM)
|
Accumulation of unprocessed mt-tRNA intermediates in skeletal muscle cells and fibroblasts |
|
|
23849775
|
IBIS
|
1 / 7739
|
|
31
|
(HPO:0008322)
|
Abnormal mitochondrial morphology |
|
|
23849775
|
IBIS
|
8 / 7739
|
|
32
|
(HPO:0003287)
|
Abnormality of mitochondrial metabolism |
|
|
23849775
|
IBIS
|
12 / 7739
|
|
33
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
23849775
|
IBIS
|
34 / 7739
|