Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
GBR
|
1
|
1
|
Yes
|
Athetosis
Dystonia Motor delay Ataxia Dysarthria Developmental delay Dystonia (any or unspecified) Delayed gross motor development Dystonia, arm Global developmental delay -Motor Mild global developmental delay Speech disturbance Cerebellar signs Delayed speech and language development Gait impairment Chorea Trigger: Stress Show more (+15) |
Developmental delay
Chorea |
|
No
|
♂
|
C
|
GBR
|
n.a.
|
n.a.
|
Yes
|
Chorea
-Motor Athetosis |
n.a.
|