| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
FRA
|
0
|
4
|
n.a.
|
Seizures
Gait difficulties Hypotonia Residual motor signs Oculogyric crisis Autonomic sign/sympt. Delayed motor development Dyskinesia Developmental delay Motor fluctuations Show more (+7) |
Hypotonia
Oculogyric crisis |