1
|
(HPO:0000518)
|
Cataract |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
25208612
|
IBIS
|
454 / 7739
|
2
|
(HPO:0000519)
|
Congenital cataract |
Very frequent [IBIS]
|
|
25208612
|
IBIS
|
73 / 7739
|
3
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Very frequent [IBIS]
|
|
25208612
|
IBIS
|
137 / 7739
|
4
|
(HPO:0003756)
|
Skeletal myopathy |
Very frequent [IBIS]
|
|
25208612
|
IBIS
|
8 / 7739
|
5
|
(HPO:0003128)
|
Lactic acidosis |
Very frequent [IBIS]
|
|
25208612
|
IBIS
|
116 / 7739
|
6
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
25208612
|
IBIS
|
576 / 7739
|
7
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
25208612
|
IBIS
|
555 / 7739
|
8
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
25208612
|
IBIS
|
151 / 7739
|
9
|
(HPO:0001992)
|
Organic aciduria |
Very frequent [Orphanet]
|
|
25208612
|
IBIS
|
28 / 7739
|
10
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
25208612
|
IBIS
|
64 / 7739
|
11
|
(HPO:0001638)
|
Cardiomyopathy |
Very frequent [Orphanet]
|
|
25208612
|
IBIS
|
192 / 7739
|
12
|
(HPO:0002094)
|
Dyspnea |
|
|
25208612
|
IBIS
|
132 / 7739
|
13
|
(HPO:0002789)
|
Tachypnea |
|
|
25208612
|
IBIS
|
48 / 7739
|
14
|
(HPO:0001880)
|
Eosinophilia |
|
|
25208612
|
IBIS
|
35 / 7739
|
15
|
(HPO:0002435)
|
Meningocele |
|
|
25208612
|
IBIS
|
23 / 7739
|
16
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
25208612
|
IBIS
|
34 / 7739
|
17
|
(HPO:0003287)
|
Abnormality of mitochondrial metabolism |
|
|
25208612
|
IBIS
|
12 / 7739
|
18
|
(MedDRA:10051004)
|
Floppy infant |
|
|
25208612
|
IBIS
|
5 / 7739
|
19
|
(HPO:0000565)
|
Esotropia |
|
|
25208612
|
IBIS
|
58 / 7739
|
20
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
25208612
|
IBIS
|
153 / 7739
|
21
|
(MedDRA:10007669)
|
Carnitine increased |
|
|
25208612
|
IBIS
|
1 / 7739
|
22
|
(OMIM)
|
Fatty infiltration of heart muscle |
|
|
25208612
|
IBIS
|
3 / 7739
|
23
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
25208612
|
IBIS
|
37 / 7739
|
24
|
(HPO:0001297)
|
Stroke |
|
|
25208612
|
IBIS
|
44 / 7739
|
25
|
(HPO:0012548)
|
Fatty replacement of skeletal muscle |
|
|
25208612
|
IBIS
|
8 / 7739
|
26
|
(HPO:0009062)
|
Infantile axial hypotonia |
|
|
25208612
|
IBIS
|
3 / 7739
|
27
|
(HPO:0001269)
|
Hemiparesis |
|
|
25208612
|
IBIS
|
51 / 7739
|
28
|
(HPO:0001250)
|
Seizures |
|
|
25208612
|
IBIS
|
1245 / 7739
|
29
|
(OMIM)
|
Dilation of ventricle |
|
|
25208612
|
IBIS
|
2 / 7739
|
30
|
(MedDRA:10067282)
|
Right atrial dilatation |
|
|
25208612
|
IBIS
|
8 / 7739
|
31
|
(HPO:0001667)
|
Right ventricular hypertrophy |
|
|
25208612
|
IBIS
|
23 / 7739
|
32
|
(HPO:0012378)
|
Fatigue |
|
|
25208612
|
IBIS
|
50 / 7739
|
33
|
(HPO:0001508)
|
Failure to thrive |
|
|
25208612
|
IBIS
|
454 / 7739
|
34
|
(HPO:0002315)
|
Headache |
|
|
25208612
|
IBIS
|
175 / 7739
|
35
|
(HPO:0000938)
|
Osteopenia |
|
|
25208612
|
IBIS
|
138 / 7739
|
36
|
(HPO:0008209)
|
Premature ovarian failure |
|
|
25208612
|
IBIS
|
28 / 7739
|
37
|
(HPO:0009141)
|
Depletion of mitochondrial DNA in muscle tissue |
|
|
25208612
|
IBIS
|
5 / 7739
|
38
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
25208612
|
IBIS
|
109 / 7739
|
39
|
(HPO:0002098)
|
Respiratory distress |
|
|
25208612
|
IBIS
|
75 / 7739
|
40
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
25208612
|
IBIS
|
224 / 7739
|
41
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
25208612
|
IBIS
|
31 / 7739
|
42
|
(HPO:0006543)
|
Cardiorespiratory arrest |
|
|
25208612
|
IBIS
|
11 / 7739
|
43
|
(OMIM)
|
Increased echogenicity |
|
|
25208612
|
IBIS
|
2 / 7739
|
44
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
25208612
|
IBIS
|
114 / 7739
|
45
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
25208612
|
IBIS
|
41 / 7739
|
46
|
(HPO:0007068)
|
Inferior vermis hypoplasia |
|
|
25208612
|
IBIS
|
6 / 7739
|
47
|
(HPO:0012447)
|
Abnormal myelination |
|
|
25208612
|
IBIS
|
7 / 7739
|
48
|
(MedDRA:10008118)
|
Cerebral infarction |
|
|
25208612
|
IBIS
|
10 / 7739
|
49
|
(OMIM)
|
COX-deficient fibers |
|
|
25208612
|
IBIS
|
3 / 7739
|