|
1
|
(HPO:0001992)
|
Organic aciduria |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
4
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
5
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
6
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
7
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
13
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
14
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
17
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
18
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
19
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
20
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
21
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
22
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
23
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
24
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
25
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
26
|
(HPO:0002181)
|
Cerebral edema |
|
|
|
|
19 / 7739
|
|
27
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
28
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
29
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
|
|
28 / 7739
|
|
30
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
31
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
32
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
33
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
34
|
(HPO:0004481)
|
Progressive macrocephaly |
|
|
|
|
8 / 7739
|
|
35
|
(HPO:0006965)
|
Acute necrotizing encephalopathy |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0008316)
|
Abnormal mitochondria in muscle tissue |
|
|
|
|
5 / 7739
|
|
37
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
38
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
39
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
40
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
41
|
(OMIM)
|
Muscle biopsy shows abnormal mitochondria |
|
|
|
|
1 / 7739
|
|
42
|
(MedDRA:10054859)
|
Myoclonic epilepsy |
|
|
|
|
7 / 7739
|
|
43
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
44
|
(OMIM)
|
Cavitating leukoencephalopathy |
|
|
|
|
7 / 7739
|
|
45
|
(OMIM)
|
Leigh syndrome |
|
|
|
|
7 / 7739
|
|
46
|
(OMIM)
|
Brainstem lesions, hyperintense on T2-weighted imaging |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Striatal lesions |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Thalamic lesions |
|
|
|
|
2 / 7739
|
|
49
|
(OMIM)
|
Cerebellar lesions |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Decreased activity of mitochondrial respiratory chain complex I |
|
|
|
|
1 / 7739
|
|
51
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|