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
-Motor Developmental delay Athetosis Gait impairment Global developmental delay Ataxia Delayed gross motor development Chorea Motor delay Delayed fine motor development Show more (+8) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Yes
|
-Motor
Delayed fine motor development Trigger: Sudden movement Dystonia (any or unspecified) Dystonia Global developmental delay Trigger: Anxiety Developmental delay Mild global developmental delay Chorea Gait impairment Trigger: Stress Delayed gross motor development Paroxysmal dyskinesia Motor delay Ataxia Athetosis Trigger: Sleep deprivation Show more (+15) |
Developmental delay
Chorea |