| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
2
|
14
|
Yes
|
Mild global developmental delay
Developmental delay -Motor Delayed gross motor development Ataxia Gait impairment Motor delay Athetosis Chorea Delayed fine motor development Global developmental delay Show more (+8) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Yes
|
Trigger: Sudden movement
Mild global developmental delay Athetosis Trigger: Anxiety Gait impairment Developmental delay Paroxysmal dyskinesia Delayed fine motor development Chorea Dystonia Global developmental delay Ataxia Delayed gross motor development Trigger: Sleep deprivation -Motor Dystonia (any or unspecified) Motor delay Trigger: Stress Show more (+15) |
Developmental delay
Chorea |