Symptom Information: Sort according to HPO 

1
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
2
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
5
 (HPO:0003134) Abnormality of peripheral nerve conduction Very frequent [Orphanet] 38 / 7739
6
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
7
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
8
 (HPO:0001265) Hyporeflexia 208 / 7739
9
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
10
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0000512) Abnormal electroretinogram Very frequent [Orphanet] 61 / 7739
13
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
14
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
15
 (HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
16
 (HPO:0000649) Abnormality of visual evoked potentials Very frequent [Orphanet] 34 / 7739
17
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
18
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
19
 (HPO:0001249) Intellectual disability 1089 / 7739
20
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
21
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
22
 (HPO:0000486) Strabismus 576 / 7739
23
 (HPO:0000602) Ophthalmoplegia 56 / 7739
24
 (HPO:0000737) Irritability 93 / 7739
25
 (HPO:0001252) Muscular hypotonia 990 / 7739
26
 (HPO:0001324) Muscle weakness 859 / 7739
27
 (HPO:0001257) Spasticity 251 / 7739
28
 (HPO:0001332) Dystonia 197 / 7739
29
 (HPO:0001349) Facial diplegia 16 / 7739
30
 (HPO:0001508) Failure to thrive 454 / 7739
31
 (HPO:0002059) Cerebral atrophy 171 / 7739
32
 (HPO:0002134) Abnormality of the basal ganglia 13 / 7739
33
 (HPO:0002194) Delayed gross motor development 37 / 7739
34
 (HPO:0002305) Athetosis 31 / 7739
35
 (HPO:0002448) Progressive encephalopathy 6 / 7739
36
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
37
 (HPO:0002912) Methylmalonic acidemia 14 / 7739
38
 (HPO:0003128) Lactic acidosis 116 / 7739
39
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
40
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
41
 (HPO:0008945) Loss of ability to walk in early childhood 2 / 7739
42
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain 34 / 7739
43
 (HPO:0009830) Peripheral neuropathy 206 / 7739
44
 (HPO:0012120) Methylmalonic aciduria 20 / 7739
45
 (HPO:0011968) Feeding difficulties 240 / 7739
46
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
47
 (HPO:0010547) Muscle flaccidity 466 / 7739
48
 (HPO:0002540) Inability to walk 19 / 7739
49
 (OMIM) Skeletal muscle tissue shows depletion of mitochondrial DNA (mtDNA) 1 / 7739
50
 (OMIM) Psychomotor delay, severe 3 / 7739
51
 (OMIM) Hyperkinetic movements 4 / 7739
52
 (OMIM) Imaging shows signal abnormalities in basal ganglia 1 / 7739
53
 (OMIM) Axonal and demyelinating peripheral neuropathy (in some patients) 2 / 7739
54
 (OMIM) Crying, inconsolable 1 / 7739
55
 (OMIM) Increased serum and CSF lactate 7 / 7739
56
 (OMIM) Methylmalonic aciduria, mild 2 / 7739
57
 (OMIM) Methylglutaconic aciduria, mild 1 / 7739
58
 (OMIM) Increased urinary carnitine esters 1 / 7739
59
 (OMIM) Aminoaciduria, intermittent 1 / 7739
60
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
61
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
62
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
63
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
64
 (HPO:0001263) Global developmental delay 853 / 7739
65
 (HPO:0003355) Aminoaciduria 65 / 7739
66
 (HPO:0003593) Infantile onset 249 / 7739