| 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 Residual motor signs Autonomic sign/sympt. Oculogyric crisis Motor fluctuations Hypotonia Dyskinesia Delayed motor development Developmental delay Show more (+7) |
Oculogyric crisis
Hypotonia |