Symptom Information: Sort according to HPO 

1
 (HPO:0000252) Microcephaly 22833457 IBIS 832 / 7739
2
 (HPO:0001250) Seizures 22833457 IBIS 1245 / 7739
3
 (HPO:0001263) Global developmental delay 22833457 IBIS 853 / 7739
4
 (HPO:0001272) Cerebellar atrophy 22833457 IBIS 197 / 7739
5
 (HPO:0001336) Myoclonus 27095821 IBIS 115 / 7739
6
 (HPO:0002059) Cerebral atrophy 22833457 IBIS 171 / 7739
7
 (HPO:0002151) Increased serum lactate 22833457 IBIS 92 / 7739
8
 (HPO:0002171) Gliosis 22833457 IBIS 48 / 7739
9
 (HPO:0002353) EEG abnormality 22833457 IBIS 188 / 7739
10
 (HPO:0003128) Lactic acidosis 22833457 IBIS 116 / 7739
11
 (HPO:0003355) Aminoaciduria rare [HPO:skoehler] 22833457 IBIS 65 / 7739
12
 (OMIM) Coarse retinal pigmentation (rare) 22833457 IBIS 1 / 7739
13
 (OMIM) Enlarged hepatocytes (rare) 22833457 IBIS 1 / 7739
14
 (OMIM) Increased glycogen content (rare) 22833457 IBIS 1 / 7739
15
 (OMIM) Deficiency of mitochondrial respiratory enzymes seen on muscle biopsy 22833457 IBIS 1 / 7739
16
 (OMIM) Diffuse cerebral atrophy seen on MRI 22833457 IBIS 1 / 7739
17
 (OMIM) Decreased pyramidal cells 22833457 IBIS 1 / 7739
18
 (OMIM) Laminar necrosis 22833457 IBIS 1 / 7739
19
 (OMIM) Reactive gliosis 22833457 IBIS 3 / 7739
20
 (OMIM) Brainstem atrophy 22833457 IBIS 5 / 7739
21
 (HPO:0001522) Death in infancy 22833457 IBIS 275 / 7739
22
 (HPO:0002123) Generalized myoclonic seizures 22833457 IBIS 62 / 7739
23
 (HPO:0002490) Increased CSF lactate 22833457 IBIS 28 / 7739
24
 (HPO:0006789) Mitochondrial encephalopathy 22833457 IBIS 5 / 7739
25
 (HPO:0200134) Epileptic encephalopathy 22833457 IBIS 42 / 7739
26
 (MedDRA:10063750) Life expectancy shortened 22833457 IBIS 4 / 7739
27
 (HPO:0012443) Abnormality of brain morphology 22833457 IBIS 45 / 7739
28
 (HPO:0002120) Cerebral cortical atrophy 22833457 IBIS 187 / 7739
29
 (MedDRA:10051990) Cortical laminar necrosis 22833457 IBIS 1 / 7739
30
 (MedDRA:10062943) Alpers' disease 22833457 IBIS 1 / 7739
31
 (HPO:0006999) Basal ganglia gliosis 22833457 IBIS 4 / 7739
32
 (MedDRA:10004153) Basal ganglion degeneration 22833457 IBIS 2 / 7739
33
 (HPO:0010663) Abnormality of thalamus morphology 22833457 IBIS 6 / 7739
34
 (HPO:0008347) Decreased activity of mitochondrial complex IV 22833457 IBIS 31 / 7739
35
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain 22833457 IBIS 34 / 7739
36
 (HPO:0011923) Decreased activity of mitochondrial complex I 22833457 IBIS 35 / 7739
37
 (HPO:0001392) Abnormality of the liver 22833457 IBIS 28 / 7739
38
 (HPO:0006568) Increased hepatic glycogen content 22833457 IBIS 34 / 7739
39
 (HPO:0012465) Elevated hepatic iron concentration 22833457 IBIS 8 / 7739
40
 (HPO:0010836) Abnormality of copper homeostasis 22833457 IBIS 2 / 7739
41
 (OMIM) Hepatic copper increased 22833457 IBIS 2 / 7739
42
 (HPO:0002521) Hypsarrhythmia 24161539 IBIS 43 / 7739
43
 (HPO:0012469) Infantile spasms 24161539 IBIS 18 / 7739
44
 (HPO:0000496) Abnormality of eye movement 24161539 IBIS 79 / 7739
45
 (MedDRA:10072731) White matter lesion 24161539 IBIS 7 / 7739
46
 (OMIM) Anteriorly rotated ears 24161539 IBIS 2 / 7739
47
 (HPO:0000356) Abnormality of the outer ear 24161539 IBIS 85 / 7739
48
 (HPO:0000431) Wide nasal bridge 24161539 IBIS 290 / 7739
49
 (HPO:0002509) Limb hypertonia 24161539 IBIS 13 / 7739
50
 (HPO:0001348) Brisk reflexes 24161539 IBIS 15 / 7739