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