Symptom Information: Sort according to HPO 

1
 (HPO:0000967) Petechiae 26 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0001251) Ataxia 413 / 7739
6
 (HPO:0001252) Muscular hypotonia 990 / 7739
7
 (HPO:0001324) Muscle weakness 859 / 7739
8
 (HPO:0001508) Failure to thrive 454 / 7739
9
 (HPO:0002028) Chronic diarrhea 51 / 7739
10
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
11
 (HPO:0002376) Developmental regression 74 / 7739
12
 (HPO:0003128) Lactic acidosis 116 / 7739
13
 (HPO:0003219) Ethylmalonic aciduria 5 / 7739
14
 (HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 20 / 7739
15
 (HPO:0007183) Focal T2 hyperintense basal ganglia lesion 6 / 7739
16
 (HPO:0008046) Abnormality of the retinal vasculature 41 / 7739
17
 (OMIM) Retinal lesions with tortuous vessels 1 / 7739
18
 (OMIM) Orthostatic acrocyanosis 1 / 7739
19
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
20
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
21
 (HPO:0010547) Muscle flaccidity 466 / 7739
22
 (OMIM) Methylsuccinic aciduria 2 / 7739
23
 (OMIM) Cytochrome c oxidase deficiency in skeletal muscle and brain 1 / 7739
24
 (OMIM) Increased serum C4 and C5 acylcarnitine esters 1 / 7739
25
 (OMIM) Increased urinary isobutyryl glycine 1 / 7739
26
 (OMIM) Increased urinary 2-methylbutyryl glycine 1 / 7739
27
 (OMIM) Increased urinary thiosulphate 1 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (HPO:0001298) Encephalopathy 72 / 7739