Symptom Information: Sort according to HPO 

1
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
2
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
3
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
4
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
5
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
6
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
7
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
8
 (HPO:0001269) Hemiparesis 51 / 7739
9
 (HPO:0001252) Muscular hypotonia 990 / 7739
10
 (HPO:0002572) Episodic vomiting 12 / 7739
11
 (HPO:0003128) Lactic acidosis 116 / 7739
12
 (HPO:0003348) Hyperalaninemia 19 / 7739
13
 (HPO:0008504) Moderate sensorineural hearing impairment 1 / 7739
14
 (HPO:0008897) Postnatal growth retardation 113 / 7739
15
 (HPO:0001510) Growth delay 295 / 7739
16
 (OMIM) Large and numerous mitochondria by EM 1 / 7739
17
 (OMIM) Hyperalaninuria 1 / 7739
18
 (OMIM) Elevated blood pyruvate 1 / 7739
19
 (OMIM) Muscle weakness, severe 3 / 7739
20
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
21
 (HPO:0001257) Spasticity 251 / 7739
22
 (HPO:0001260) Dysarthria 329 / 7739
23
 (HPO:0001310) Dysmetria 76 / 7739
24
 (HPO:0001332) Dystonia 197 / 7739
25
 (HPO:0002151) Increased serum lactate 92 / 7739
26
 (HPO:0002384) Focal seizures with impairment of consciousness or awareness 17 / 7739
27
 (HPO:0003391) Gowers sign 37 / 7739
28
 (HPO:0003542) Increased serum pyruvate 18 / 7739
29
 (HPO:0003737) Mitochondrial myopathy 18 / 7739
30
 (HPO:0040083) Toe walking 15 / 7739