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