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