ATP6V0C
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 10.0% | 3/30 |
| Female | 13.3% | 4/30 |
| Indifferent | 0% | 0/30 |
| Unknown | 76.7% | 23/30 |
| General | ||
| Birth Length abnormalities | 0% | 0/30 |
| Birth Weight abnormalities | 0% | 0/30 |
| Birth Head circumference abnormalities | 0% | 0/30 |
| Current Height abnormalities | 3.3% | 1/30 |
| < P3 : Short stature | 3.3% | 1/30 |
| Current Weight abnormalities | 0% | 0/30 |
| Current Head circumference abnormalities | 0% | 0/30 |
| Neurology | ||
| Neurological abnormalities | 93.3% | 28/30 |
| Generalized tonic-clonic seizures | 66.7% | 20/30 |
| Febrile seizures | 33.3% | 10/30 |
| Absence seizures | 20.0% | 6/30 |
| Atonic seizures | 20.0% | 6/30 |
| Focal seizures without impairment of consciousness or awareness | 10.0% | 3/30 |
| Generalized myoclonic seizures | 10.0% | 3/30 |
| Infantile spasms | 10.0% | 3/30 |
| Myoclonus | 10.0% | 3/30 |
| Seizures | 10.0% | 3/30 |
| Focal seizures | 6.7% | 2/30 |
| Focal seizures with impairment of consciousness or awareness | 6.7% | 2/30 |
| Focal tonic seizures | 6.7% | 2/30 |
| Asymmetric limb muscle stiffness | 3.3% | 1/30 |
| EEG abnormality | 3.3% | 1/30 |
| EEG with polyspike wave complexes | 3.3% | 1/30 |
| EEG with abnormally slow frequencies | 3.3% | 1/30 |
| Focal clonic seizures | 3.3% | 1/30 |
| Generalized seizures | 3.3% | 1/30 |
| Generalized tonic seizures | 3.3% | 1/30 |
| Multifocal epileptiform discharges | 3.3% | 1/30 |
| Behavioral problems | 28.0% | 7/25 |
| Absent speech | 20.0% | 5/25 |
| Developmental regression | 12.0% | 3/25 |
| Brain abnormality | 20.0% | 1/5 |
| Limbic malformations | 20.0% | 1/5 |