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