Symptom Information: Sort according to HPO 

1
 (HPO:0001924) Sideroblastic anemia Very frequent [IBIS] 15971356 IBIS 12 / 7739
2
 (HPO:0003128) Lactic acidosis Very frequent [IBIS] 15971356 IBIS 116 / 7739
3
 (HPO:0003737) Mitochondrial myopathy Very frequent [IBIS] 15971356 IBIS 18 / 7739
4
 (HPO:0000218) High palate 7726239 IBIS 356 / 7739
5
 (HPO:0000252) Microcephaly 21686963 IBIS 832 / 7739
6
 (HPO:0000331) Short chin 7726239 IBIS 33 / 7739
7
 (HPO:0000347) Micrognathia 7726239 IBIS 426 / 7739
8
 (HPO:0000823) Delayed puberty 14981724 IBIS 65 / 7739
9
 (HPO:0000980) Pallor 14981724 IBIS 52 / 7739
10
 (HPO:0001249) Intellectual disability 21686963 IBIS 1089 / 7739
11
 (HPO:0001263) Global developmental delay 15971356 IBIS 853 / 7739
12
 (HPO:0001270) Motor delay 15971356 IBIS 322 / 7739
13
 (HPO:0001931) Hypochromic anemia 14981724 IBIS 5 / 7739
14
 (HPO:0001935) Microcytic anemia 14981724 IBIS 32 / 7739
15
 (HPO:0002151) Increased serum lactate 14981724 IBIS 92 / 7739
16
 (HPO:0003281) Increased serum ferritin 14981724 IBIS 32 / 7739
17
 (HPO:0003323) Progressive muscle weakness 14981724 IBIS 17 / 7739
18
 (HPO:0003546) Exercise intolerance 15971356 IBIS 62 / 7739
19
 (HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 14981724 IBIS 20 / 7739
20
 (HPO:0009055) Generalized limb muscle atrophy 21686963 IBIS 4 / 7739
21
 (HPO:0009743) Distichiasis 7726239 IBIS 9 / 7739
22
 (HPO:0012132) Erythroid hyperplasia 14981724 IBIS 4 / 7739
23
 (HPO:0001510) Growth delay 21686963 IBIS 295 / 7739
24
 (HPO:0000327) Hypoplasia of the maxilla 7726239 IBIS 129 / 7739
25
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 7726239 IBIS 18 / 7739
26
 (OMIM) High philtrum (1 family) 7726239 IBIS 1 / 7739
27
 (OMIM) Skeletal muscle biopsy shows fat droplets in sarcoplasm and mitochondria 14981724 IBIS 1 / 7739
28
 (OMIM) Mitochondrial paracrystalline inclusion bodies 15971356 IBIS 1 / 7739
29
 (OMIM) Ringed sideroblasts on peripheral smear and bone marrow 15971356 IBIS 1 / 7739
30
 (OMIM) Pappenheimer bodies 14981724 IBIS 1 / 7739
31
 (HPO:0011923) Decreased activity of mitochondrial complex I 15971356 IBIS 35 / 7739
32
 (HPO:0008347) Decreased activity of mitochondrial complex IV 15971356 IBIS 31 / 7739
33
 (HPO:0003196) Short nose 15971356 IBIS 264 / 7739
34
 (HPO:0000322) Short philtrum 15971356 IBIS 130 / 7739
35
 (HPO:0000212) Gingival overgrowth 15971356 IBIS 43 / 7739
36
 (HPO:0000278) Retrognathia 15971356 IBIS 100 / 7739
37
 (HPO:0002058) Myopathic facies 15971356 IBIS 26 / 7739
38
 (HPO:0000316) Hypertelorism 21686963 IBIS 644 / 7739
39
 (HPO:0001252) Muscular hypotonia 21686963 IBIS 990 / 7739
40
 (HPO:0003691) Scapular winging 21686963 IBIS 51 / 7739
41
 (HPO:0003307) Hyperlordosis 21686963 IBIS 122 / 7739
42
 (HPO:0008306) Abnormal iron deposition in mitochondria 7726239 IBIS 2 / 7739
43
 (HPO:0012240) Increased intramyocellular lipid droplets 14981724 IBIS 7 / 7739
44
 (HPO:0003202) Skeletal muscle atrophy 21686963; 26556812 IBIS 281 / 7739
45
 (HPO:0002751) Kyphoscoliosis 14981724 IBIS 131 / 7739
46
 (HPO:0100543) Cognitive impairment 21686963 IBIS 230 / 7739
47
 (HPO:0000504) Abnormality of vision 21686963 IBIS 22 / 7739
48
 (HPO:0001131) Corneal dystrophy 26556812 IBIS 56 / 7739
49
 (HPO:0001288) Gait disturbance 26556812 IBIS 318 / 7739
50
 (HPO:0000407) Sensorineural hearing impairment 26556812 IBIS 524 / 7739
51
 (HPO:0002093) Respiratory insufficiency 26556812 IBIS 410 / 7739
52
 (HPO:0001639) Hypertrophic cardiomyopathy 26556812 IBIS 137 / 7739
53
 (HPO:0002059) Cerebral atrophy 26556812 IBIS 171 / 7739
54
 (HPO:0001272) Cerebellar atrophy 26556812 IBIS 197 / 7739
55
 (HPO:0007377) Abnormality of somatosensory evoked potentials 26556812 IBIS 2 / 7739