POLG Pathogenicity Prediction Server
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Symptom information is presented for all possible pathogenic subcluster combinations gathered from patient entries in the database. See symptoms grouping information

1A1B1C1D1E1F1G2A2B2C2D3A3B3C3D4A5A5B
1A
No data
No data
No data
Seizures100.0%
Alpers syndrome50.0%
Developmental Delay50.0%
Hepatopathy50.0%
Neuropathy50.0%
Other50.0%
in a total of 2 patients
No data
No data
No data
Unknown100.0%
in 1 patient
No data
No data
No data
No data
No data
No data
No data
No data
No data
No data
1B
No data
No data
Developmental Delay75.0%
Seizures75.0%
GI symptoms50.0%
Hypotonia50.0%
Other50.0%
Ataxia25.0%
in a total of 4 patients
No data
No data
No data
Ataxia100.0%
CPEO100.0%
Developmental Delay100.0%
Migraines100.0%
Myopathy100.0%
Neuropathy100.0%
in 1 patient
No data
No data
No data
No data
CPEO100.0%
in 1 patient
No data
No data
No data
No data
Ataxia100.0%
CNS symptoms100.0%
CPEO100.0%
Neuropathy100.0%
Other100.0%
in 1 patient
1C
No data
No data
CPEO100.0%
CNS symptoms50.0%
Myopathy50.0%
in a total of 2 patients
No data
No data
Developmental Delay100.0%
Ataxia75.0%
Seizures75.0%
Alpers syndrome25.0%
GI symptoms25.0%
Hepatopathy25.0%
in a total of 4 patients
No data
No data
No data
No data
No data
No data
No data
No data
No data
Seizures100.0%
in 1 patient
1D
Unknown100.0%
in 1 patient
Ataxia66.7%
Seizures66.7%
CNS symptoms33.3%
Developmental Delay33.3%
Migraines33.3%
Myopathy33.3%
in a total of 3 patients
CNS symptoms100.0%
CPEO100.0%
Myopathy100.0%
Ataxia50.0%
Developmental Delay50.0%
Neuropathy50.0%
in a total of 2 patients
No data
Seizures87.5%
Developmental Delay62.5%
Alpers syndrome53.1%
Hepatopathy37.5%
Ataxia28.1%
Hypotonia25.0%
in a total of 32 patients
No data
CPEO77.8%
Myopathy55.6%
Neuropathy33.3%
Ataxia22.2%
Developmental Delay22.2%
Other22.2%
in a total of 9 patients
No data
Ataxia50.0%
CNS symptoms50.0%
CPEO50.0%
Myopathy50.0%
Seizures50.0%
in a total of 2 patients
Alpers syndrome50.0%
Ataxia50.0%
CPEO50.0%
Developmental Delay50.0%
Migraines50.0%
Myopathy50.0%
in a total of 2 patients
No data
Developmental Delay57.1%
Ataxia42.9%
CPEO42.9%
Alpers syndrome28.6%
GI symptoms28.6%
Hepatopathy28.6%
in a total of 7 patients
Hypotonia100.0%
Developmental Delay66.7%
Other66.7%
CPEO33.3%
GI symptoms33.3%
Hepatopathy33.3%
in a total of 3 patients
Ataxia80.0%
CNS symptoms80.0%
CPEO60.0%
Migraines40.0%
Other40.0%
Developmental Delay20.0%
in a total of 5 patients
Seizures77.8%
Developmental Delay59.3%
Alpers syndrome48.1%
Hepatopathy44.4%
Ataxia33.3%
CNS symptoms18.5%
in a total of 27 patients
1E
Myopathy60.0%
CPEO40.0%
Hepatopathy40.0%
Ataxia20.0%
CNS symptoms20.0%
Developmental Delay20.0%
in a total of 5 patients
No data
Developmental Delay100.0%
GI symptoms100.0%
Hepatopathy100.0%
Hypotonia100.0%
in 1 patient
Developmental Delay87.5%
Seizures83.3%
Alpers syndrome45.8%
Hepatopathy33.3%
Hypotonia16.7%
Other16.7%
in a total of 24 patients
CPEO100.0%
Myopathy100.0%
Neuropathy100.0%
in 1 patient
CPEO100.0%
Myopathy100.0%
Neuropathy100.0%
Other50.0%
in a total of 2 patients
No data
Ataxia100.0%
CNS symptoms100.0%
in 1 patient
No data
No data
Ataxia66.7%
Developmental Delay66.7%
Seizures66.7%
Alpers syndrome33.3%
CNS symptoms33.3%
CPEO33.3%
in a total of 3 patients
No data
Alpers syndrome100.0%
Ataxia100.0%
Developmental Delay100.0%
Seizures100.0%
in 1 patient
Seizures58.3%
Developmental Delay41.7%
Hepatopathy41.7%
Ataxia33.3%
Myopathy33.3%
CPEO25.0%
in a total of 12 patients
1F
No data
No data
CPEO75.0%
Myopathy62.5%
CNS symptoms50.0%
Hepatopathy25.0%
Neuropathy25.0%
Ataxia12.5%
in a total of 8 patients
Developmental Delay100.0%
Hepatopathy100.0%
Other100.0%
in 1 patient
CPEO50.0%
Developmental Delay50.0%
GI symptoms50.0%
Hepatopathy50.0%
Hypotonia50.0%
Myopathy50.0%
in a total of 2 patients
No data
No data
No data
No data
No data
No data
No data
Ataxia50.0%
CNS symptoms50.0%
Hepatopathy50.0%
Hypotonia50.0%
Neuropathy50.0%
Seizures50.0%
in a total of 2 patients
1G
No data
Developmental Delay75.0%
Alpers syndrome50.0%
Hypotonia50.0%
Seizures50.0%
CPEO25.0%
Hepatopathy25.0%
in a total of 4 patients
Developmental Delay100.0%
Myopathy100.0%
in 1 patient
CPEO50.0%
Neuropathy50.0%
GI symptoms33.3%
Hepatopathy33.3%
Other33.3%
Ataxia16.7%
in a total of 6 patients
No data
No data
No data
Developmental Delay100.0%
Hepatopathy100.0%
Hypotonia100.0%
in 1 patient
Developmental Delay100.0%
GI symptoms100.0%
Neuropathy100.0%
in 1 patient
CPEO50.0%
Developmental Delay50.0%
GI symptoms50.0%
Hypotonia50.0%
Myopathy50.0%
Other50.0%
in a total of 2 patients
No data
Ataxia100.0%
CNS symptoms50.0%
CPEO50.0%
Developmental Delay50.0%
Hypotonia50.0%
Myopathy50.0%
in a total of 2 patients
2A
Ataxia67.4%
Seizures65.2%
CNS symptoms54.3%
CPEO54.3%
Neuropathy47.8%
Myopathy26.1%
in a total of 46 patients
Ataxia100.0%
CNS symptoms100.0%
CPEO100.0%
Myopathy100.0%
in 1 patient
CPEO55.6%
Developmental Delay55.6%
Seizures44.4%
Alpers syndrome33.3%
Ataxia33.3%
CNS symptoms22.2%
in a total of 9 patients
Ataxia100.0%
Developmental Delay50.0%
Hepatopathy50.0%
Myopathy50.0%
Neuropathy50.0%
Other50.0%
in a total of 2 patients
CPEO100.0%
Ataxia50.0%
CNS symptoms50.0%
Myopathy50.0%
in a total of 2 patients
Seizures62.5%
CNS symptoms43.8%
Developmental Delay43.8%
CPEO31.3%
Alpers syndrome25.0%
Myopathy25.0%
in a total of 16 patients
Developmental Delay100.0%
Hepatopathy100.0%
Hypotonia50.0%
in a total of 2 patients
CPEO75.0%
Developmental Delay75.0%
GI symptoms75.0%
Hepatopathy75.0%
Myopathy50.0%
Neuropathy50.0%
in a total of 4 patients
Developmental Delay100.0%
Seizures100.0%
GI symptoms66.7%
Hypotonia66.7%
Neuropathy33.3%
Other33.3%
in a total of 3 patients
CPEO83.3%
Ataxia66.7%
CNS symptoms50.0%
Myopathy50.0%
Other33.3%
Developmental Delay16.7%
in a total of 6 patients
Ataxia80.9%
CPEO57.4%
Seizures46.8%
CNS symptoms44.7%
Neuropathy44.7%
Migraines27.7%
in a total of 47 patients
2B
No data
No data
No data
No data
No data
No data
No data
No data
No data
No data
2C
CPEO80.0%
Myopathy50.0%
Neuropathy30.0%
Developmental Delay20.0%
GI symptoms20.0%
Other20.0%
in a total of 10 patients
No data
No data
CPEO100.0%
Myopathy75.0%
Ataxia25.0%
CNS symptoms25.0%
in a total of 4 patients
CPEO100.0%
CNS symptoms50.0%
Myopathy25.0%
Neuropathy25.0%
in a total of 4 patients
Ataxia100.0%
CNS symptoms100.0%
CPEO100.0%
Myopathy100.0%
in 1 patient
Developmental Delay60.0%
Alpers syndrome40.0%
CPEO40.0%
Hepatopathy40.0%
Hypotonia40.0%
Seizures40.0%
in a total of 5 patients
CPEO100.0%
in 1 patient
CNS symptoms50.0%
CPEO50.0%
in a total of 2 patients
2D
CNS symptoms100.0%
CPEO100.0%
Myopathy100.0%
in 1 patient
No data
No data
No data
No data
No data
Developmental Delay100.0%
Hepatopathy100.0%
Hypotonia100.0%
in 1 patient
Seizures100.0%
Hepatopathy66.7%
Alpers syndrome33.3%
Developmental Delay33.3%
Myopathy33.3%
in a total of 3 patients
3A
CNS symptoms100.0%
CPEO100.0%
in 1 patient
No data
No data
No data
No data
No data
No data
3B
CPEO90.0%
Myopathy70.0%
Neuropathy60.0%
Hepatopathy40.0%
Ataxia30.0%
CNS symptoms30.0%
in a total of 10 patients
No data
Developmental Delay100.0%
Seizures100.0%
Alpers syndrome50.0%
Ataxia50.0%
CNS symptoms50.0%
CPEO50.0%
in a total of 2 patients
No data
Alpers syndrome50.0%
Ataxia50.0%
Developmental Delay50.0%
Neuropathy50.0%
Seizures50.0%
in a total of 2 patients
CPEO100.0%
Myopathy66.7%
CNS symptoms33.3%
Developmental Delay33.3%
Hepatopathy33.3%
Migraines33.3%
in a total of 3 patients
3C
No data
No data
No data
CNS symptoms66.7%
CPEO66.7%
Ataxia33.3%
Myopathy33.3%
Unknown33.3%
in a total of 3 patients
Developmental Delay100.0%
GI symptoms100.0%
Hepatopathy100.0%
Seizures100.0%
in 1 patient
3D
Developmental Delay75.0%
Seizures62.5%
Alpers syndrome50.0%
Hepatopathy37.5%
Hypotonia12.5%
Myopathy12.5%
in a total of 8 patients
No data
CPEO75.0%
Ataxia50.0%
CNS symptoms50.0%
Alpers syndrome25.0%
Developmental Delay25.0%
Other25.0%
in a total of 4 patients
Seizures100.0%
CPEO50.0%
Developmental Delay50.0%
Hepatopathy50.0%
Myopathy50.0%
Neuropathy50.0%
in a total of 2 patients
4A
No data
No data
Hepatopathy50.0%
Seizures50.0%
Alpers syndrome25.0%
Ataxia25.0%
CNS symptoms25.0%
Developmental Delay25.0%
in a total of 4 patients
5A
Ataxia100.0%
CNS symptoms100.0%
CPEO100.0%
Myopathy100.0%
in 1 patient
Seizures50.0%
Unknown50.0%
in a total of 2 patients
5B
Ataxia91.0%
CNS symptoms76.1%
Seizures61.2%
CPEO53.7%
Neuropathy37.3%
Migraines22.4%
in a total of 67 patients
1A1B1C1D1E1F1G2A2B2C2D3A3B3C3D4A5A5B
infantile, ages 0-3
childhood, ages 3-13
juvenile, ages 13-20
adult, ages 20-
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