| Cluster 1 | Cluster 2 | A467T | P587L | Cluster 3 | Cluster 4 | Cluster 5 | G737R | W748S |
| Cluster 1 | | developmental delay | 30.0% | | movement disorder (ataxia) | 25.0% | | PEO | 25.0% | | muscle weakness | 20.0% | | hypotonic | 20.0% | | dementia | 20.0% | | in a total of 20 patients |
| | encephalopathy | 43.8% | | developmental delay | 43.8% | | epilepsy | 35.4% | | alpers syndrome | 32.3% | | movement disorder (ataxia) | 19.8% | | PEO | 19.8% | | in a total of 96 patients |
| | encephalopathy | 59.4% | | developmental delay | 53.6% | | epilepsy | 46.4% | | alpers syndrome | 43.5% | | movement disorder (ataxia) | 21.7% | | hypotonic | 20.3% | | in a total of 69 patients |
| | ptosis | 44.4% | | PEO | 44.4% | | peripheral neuropathy | 33.3% | | ragged red fibers | 22.2% | | muscle weakness | 22.2% | | lactic acidosis | 16.7% | | in a total of 18 patients |
| | movement disorder (ataxia) | 44.4% | | encephalopathy | 33.3% | | developmental delay | 33.3% | | epilepsy | 27.8% | | PEO | 27.8% | | failure to thrive | 22.2% | | in a total of 18 patients |
| | hypotonic | 80.0% | | failure to thrive | 60.0% | | GI problems | 40.0% | | hearing loss | 40.0% | | ragged red fibers | 20.0% | | muscle weakness | 20.0% | | in a total of 5 patients |
| | movement disorder (ataxia) | 41.2% | | developmental delay | 37.3% | | encephalopathy | 33.3% | | epilepsy | 31.4% | | alpers syndrome | 31.4% | | liver failure | 23.5% | | in a total of 51 patients |
| | parkinson's disease | 33.3% | | no known symptoms | 16.7% | | lactic acidosis | 16.7% | | intractable seizure | 16.7% | | polyneuropathy | 16.7% | | sensomotor neuropathy | 16.7% | | in a total of 6 patients |
| | developmental delay | 45.9% | | epilepsy | 40.5% | | movement disorder (ataxia) | 40.5% | | encephalopathy | 40.5% | | alpers syndrome | 40.5% | | liver failure | 29.7% | | in a total of 37 patients |
|
| Cluster 2 | | | movement disorder (ataxia) | 53.6% | | PEO | 36.2% | | ptosis | 27.5% | | epilepsy | 26.1% | | peripheral neuropathy | 26.1% | | myoclonic seizures | 24.6% | | in a total of 69 patients |
| | encephalopathy | 57.1% | | developmental delay | 57.1% | | myoclonic seizures | 42.9% | | liver failure | 42.9% | | alpers syndrome | 42.9% | | status epilepticus | 28.6% | | in a total of 7 patients |
| | ptosis | 100.0% | | PEO | 100.0% | | atrial hypertrophy | 100.0% | | in 1 patient |
| | PEO | 45.5% | | epilepsy | 27.3% | | ptosis | 24.2% | | encephalopathy | 24.2% | | dysphagia | 21.2% | | developmental delay | 18.2% | | in a total of 33 patients |
| | epilepsy | 50.0% | | hypotonic | 50.0% | | failure to thrive | 37.5% | | PEO | 25.0% | | encephalopathy | 25.0% | | developmental delay | 25.0% | | in a total of 8 patients |
| | movement disorder (ataxia) | 68.3% | | PEO | 41.7% | | epilepsy | 30.0% | | ptosis | 25.0% | | dysarthria | 25.0% | | headache/ migraine | 21.7% | | in a total of 60 patients |
| | epilepsy | 100.0% | | myopathy | 50.0% | | liver dysfunction | 50.0% | | encephalopathy | 50.0% | | developmental delay | 50.0% | | alpers syndrome | 50.0% | | in a total of 2 patients |
| | epilepsy | 100.0% | | liver failure | 100.0% | | in 1 patient |
|
| A467T | | | | movement disorder (ataxia) | 67.4% | | PEO | 32.6% | | myoclonic seizures | 30.4% | | epilepsy | 30.4% | | peripheral neuropathy | 28.3% | | status epilepticus | 23.9% | | in a total of 46 patients |
| | ptosis | 66.7% | | PEO | 66.7% | | movement disorder (ataxia) | 33.3% | | sensory ataxia | 33.3% | | peripheral neuropathy | 33.3% | | polyneuropathy | 33.3% | | in a total of 3 patients |
| | epilepsy | 37.5% | | encephalopathy | 33.3% | | ptosis | 29.2% | | PEO | 29.2% | | developmental delay | 25.0% | | liver failure | 16.7% | | in a total of 24 patients |
| | failure to thrive | 100.0% | | epilepsy | 66.7% | | hypotonic | 66.7% | | GI problems | 66.7% | | myoclonic seizures | 33.3% | | delayed myelination | 33.3% | | in a total of 3 patients |
| | movement disorder (ataxia) | 33.3% | | PEO | 33.3% | | myopathy | 22.2% | | ptosis | 22.2% | | encephalopathy | 22.2% | | dysarthria | 22.2% | | in a total of 9 patients |
| | movement disorder (ataxia) | 100.0% | | cerebellar atrophy | 100.0% | | PEO | 100.0% | | hearing loss | 100.0% | | cerebellar ataxia | 50.0% | | sensory ataxia | 50.0% | | in a total of 2 patients |
| | movement disorder (ataxia) | 85.7% | | PEO | 45.2% | | epilepsy | 33.3% | | headache/ migraine | 31.0% | | dysarthria | 28.6% | | ptosis | 26.2% | | in a total of 42 patients |
|
| P587L | | | | | PEO | 80.0% | | myopathy | 60.0% | | epilepsy | 20.0% | | ptosis | 20.0% | | encephalopathy | 20.0% | | developmental delay | 20.0% | | in a total of 5 patients |
| | PEO | 100.0% | | myopathy | 28.6% | | dysphagia | 28.6% | | movement disorder (ataxia) | 14.3% | | polyneuropathy | 14.3% | | axonal sensorimotor polyneuropathy | 14.3% | | in a total of 7 patients |
| | epilepsy | 40.0% | | PEO | 40.0% | | hypotonic | 40.0% | | encephalopathy | 40.0% | | developmental delay | 40.0% | | alpers syndrome | 40.0% | | in a total of 5 patients |
| | No data | | ptosis | 50.0% | | PEO | 50.0% | | ophthalmoplegia | 50.0% | | diplopia | 50.0% | | external ophthalmoplegia | 50.0% | | parkinson's disease | 50.0% | | in a total of 2 patients |
|
| Cluster 3 | | | | | | PEO | 42.9% | | epilepsy | 33.3% | | ptosis | 33.3% | | encephalopathy | 33.3% | | developmental delay | 33.3% | | lactic acidosis | 23.8% | | in a total of 21 patients |
| No data | | PEO | 53.3% | | ptosis | 40.0% | | epilepsy | 26.7% | | movement disorder (ataxia) | 26.7% | | dysarthria | 26.7% | | encephalopathy | 20.0% | | in a total of 15 patients |
| | muscle weakness | 100.0% | | ptosis | 100.0% | | PEO | 100.0% | | in 1 patient |
| | status epilepticus | 50.0% | | epilepsy | 50.0% | | ptosis | 50.0% | | lactic acidosis | 25.0% | | myoclonic seizures | 25.0% | | epilepsia partialis | 25.0% | | in a total of 4 patients |
|
| Cluster 4 | | | | | | No data | | myoclonic seizures | 50.0% | | epilepsy | 50.0% | | hemiparesis | 25.0% | | epilepsia partialis | 25.0% | | movement disorder (ataxia) | 25.0% | | peripheral neuropathy | 25.0% | | in a total of 4 patients |
| | movement disorder (ataxia) | 100.0% | | peripheral neuropathy | 100.0% | | tremor | 100.0% | | in 1 patient |
| | myoclonic seizures | 66.7% | | epilepsy | 66.7% | | hemiparesis | 33.3% | | epilepsia partialis | 33.3% | | liver failure | 33.3% | | liver dysfunction | 33.3% | | in a total of 3 patients |
|
| Cluster 5 | | | | | | | | movement disorder (ataxia) | 87.1% | | epilepsy | 47.1% | | PEO | 38.6% | | dysarthria | 35.7% | | nystagmus | 31.4% | | myoclonic seizures | 24.3% | | in a total of 70 patients |
| No data | | no known symptoms | 50.0% | | epilepsia partialis | 50.0% | | in a total of 2 patients |
|
| G737R | | | | | | | | No data | | movement disorder (ataxia) | 100.0% | | ptosis | 100.0% | | PEO | 100.0% | | ophthalmoplegia | 100.0% | | diplopia | 100.0% | | external ophthalmoplegia | 100.0% | | in 1 patient |
|
| W748S | | | | | | | | | | movement disorder (ataxia) | 89.4% | | epilepsy | 50.0% | | PEO | 37.9% | | dysarthria | 37.9% | | nystagmus | 33.3% | | myoclonic seizures | 25.8% | | in a total of 66 patients |
|
| Cluster 1 | Cluster 2 | A467T | P587L | Cluster 3 | Cluster 4 | Cluster 5 | G737R | W748S |