|
1
|
(HPO:0003676)
|
Progressive disorder |
Very frequent [IBIS]
|
100% (n=12)
|
22492562
|
IBIS
|
148 / 7739
|
|
2
|
(HPO:0002151)
|
Increased serum lactate |
Very frequent [IBIS]
|
|
22492562
|
IBIS
|
92 / 7739
|
|
3
|
(HPO:0002352)
|
Leukoencephalopathy |
Very frequent [IBIS]
|
|
22492562
|
IBIS
|
32 / 7739
|
|
4
|
(HPO:0002490)
|
Increased CSF lactate |
Very frequent [IBIS]
|
|
22492562
|
IBIS
|
28 / 7739
|
|
5
|
(HPO:0006789)
|
Mitochondrial encephalopathy |
Very frequent [IBIS]
|
|
22492562
|
IBIS
|
5 / 7739
|
|
6
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
Very frequent [IBIS]
|
|
22492562
|
IBIS
|
73 / 7739
|
|
7
|
(HPO:0002363)
|
Abnormality of brainstem morphology |
Very frequent [IBIS]
|
|
22492562
|
IBIS
|
14 / 7739
|
|
8
|
(HPO:0010663)
|
Abnormality of thalamus morphology |
Very frequent [IBIS]
|
|
22492562
|
IBIS
|
6 / 7739
|
|
9
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
23008233
|
IBIS
|
349 / 7739
|
|
10
|
(HPO:0000505)
|
Visual impairment |
|
|
22492562
|
IBIS
|
297 / 7739
|
|
11
|
(HPO:0000508)
|
Ptosis |
|
|
22492562
|
IBIS
|
459 / 7739
|
|
12
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
22492562
|
IBIS
|
56 / 7739
|
|
13
|
(HPO:0001250)
|
Seizures |
|
|
22492562
|
IBIS
|
1245 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
22492562
|
IBIS
|
853 / 7739
|
|
15
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
22492562
|
IBIS
|
29 / 7739
|
|
16
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
22492562
|
IBIS
|
101 / 7739
|
|
17
|
(HPO:0001332)
|
Dystonia |
|
|
22492562
|
IBIS
|
197 / 7739
|
|
18
|
(HPO:0001396)
|
Cholestasis |
rare [HPO:skoehler]
|
|
23008233
|
IBIS
|
136 / 7739
|
|
19
|
(HPO:0001403)
|
Macrovesicular hepatic steatosis |
rare [HPO:skoehler]
|
|
23008233
|
IBIS
|
7 / 7739
|
|
20
|
(HPO:0001508)
|
Failure to thrive |
|
|
26893310
|
IBIS
|
454 / 7739
|
|
21
|
(HPO:0002067)
|
Bradykinesia |
|
|
22492562
|
IBIS
|
62 / 7739
|
|
22
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
22492562
|
IBIS
|
161 / 7739
|
|
23
|
(HPO:0002240)
|
Hepatomegaly |
rare [HPO:skoehler]
|
|
23008233
|
IBIS
|
467 / 7739
|
|
24
|
(HPO:0002376)
|
Developmental regression |
|
|
22492562
|
IBIS
|
74 / 7739
|
|
25
|
(HPO:0003128)
|
Lactic acidosis |
|
|
26893310
|
IBIS
|
116 / 7739
|
|
26
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
23008233
|
IBIS
|
37 / 7739
|
|
27
|
(HPO:0006989)
|
Dysplastic corpus callosum |
|
|
22492562
|
IBIS
|
7 / 7739
|
|
28
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
22492562
|
IBIS
|
31 / 7739
|
|
29
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
22492562
|
IBIS
|
35 / 7739
|
|
30
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
22492562
|
IBIS
|
22 / 7739
|
|
31
|
(OMIM)
|
Interventricular septal hypertrophy (1 patient) |
|
|
23008233
|
IBIS
|
3 / 7739
|
|
32
|
(OMIM)
|
Fibrosis, mild (1 patient) |
|
|
23008233
|
IBIS
|
1 / 7739
|
|
33
|
(OMIM)
|
Muscle biopsy shows cytochrome c oxidase-negative fibers |
|
|
22492562
|
IBIS
|
1 / 7739
|
|
34
|
(OMIM)
|
Decreased activities of mitochondrial complexes I, III, and IV |
|
|
22492562
|
IBIS
|
1 / 7739
|
|
35
|
(OMIM)
|
Impaired mitochondrial respiration |
|
|
23008233
|
IBIS
|
1 / 7739
|
|
36
|
(OMIM)
|
Lack of head or postural control (in severe cases) |
|
|
22492562
|
IBIS
|
1 / 7739
|
|
37
|
(OMIM)
|
Lack of speech |
|
|
22492562
|
IBIS
|
17 / 7739
|
|
38
|
(OMIM)
|
Swelling of the deep white matter seen on MRI |
|
|
22492562
|
IBIS
|
1 / 7739
|
|
39
|
(OMIM)
|
T2-weighted hyperintensities in deep cerebral white matter, brainstem, and cerebellar white matter with sparing of the periventricular rim |
|
|
22492562
|
IBIS
|
1 / 7739
|
|
40
|
(OMIM)
|
Swelling of the cerebral white matter |
|
|
22492562
|
IBIS
|
1 / 7739
|
|
41
|
(OMIM)
|
Increased cerebral lactate |
|
|
23008233
|
IBIS
|
1 / 7739
|
|
42
|
(OMIM)
|
Abnormal liver enzymes, intermittent |
|
|
22492562
|
IBIS
|
5 / 7739
|
|
43
|
(OMIM)
|
Increased alpha-fetoprotein |
|
|
22492562
|
IBIS
|
5 / 7739
|
|
44
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
22492562
|
IBIS
|
42 / 7739
|
|
45
|
(OMIM)
|
Visual defects |
|
|
22492562
|
IBIS
|
4 / 7739
|
|
46
|
(OMIM)
|
Dysgenesis of the corpus callosum (1 patient) |
|
|
22492562
|
IBIS
|
2 / 7739
|
|
47
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
22492562
|
IBIS
|
22 / 7739
|
|
48
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
23008233
|
IBIS
|
67 / 7739
|
|
49
|
(HPO:0000047)
|
Hypospadias |
|
|
23008233
|
IBIS
|
250 / 7739
|
|
50
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
23008233
|
IBIS
|
158 / 7739
|
|
51
|
(MedDRA:10057576)
|
Cardiac septal hypertrophy |
|
|
23008233
|
IBIS
|
4 / 7739
|
|
52
|
(HPO:0001344)
|
Absent speech |
|
|
22492562
|
IBIS
|
57 / 7739
|
|
53
|
(HPO:0012444)
|
Brain atrophy |
|
|
22492562
|
IBIS
|
24 / 7739
|
|
54
|
(HPO:0002421)
|
Poor head control |
|
|
22492562
|
IBIS
|
23 / 7739
|
|
55
|
(HPO:0007042)
|
Focal white matter lesions |
|
|
22492562
|
IBIS
|
7 / 7739
|
|
56
|
(HPO:0012762)
|
Cerebral white matter atrophy |
|
|
22492562
|
IBIS
|
3 / 7739
|
|
57
|
(HPO:0005216)
|
Chewing difficulties |
|
|
22492562
|
IBIS
|
6 / 7739
|
|
58
|
(HPO:0007341)
|
Diffuse swelling of cerebral white matter |
|
|
22492562
|
IBIS
|
5 / 7739
|
|
59
|
(HPO:0012696)
|
Abnormal thalamic MRI signal intensity |
|
|
22492562
|
IBIS
|
2 / 7739
|
|
60
|
(HPO:0012747)
|
Abnormal brainstem MRI signal intensity |
|
|
22492562
|
IBIS
|
1 / 7739
|
|
61
|
(HPO:0012751)
|
Abnormal basal ganglia MRI signal intensity |
|
|
22492562
|
IBIS
|
4 / 7739
|
|
62
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
22492562
|
IBIS
|
34 / 7739
|