Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
AUS
|
2
|
n.a.
|
Yes
|
Chorea
-Motor Developmental delay Cerebellar signs Global developmental delay Motor delay Athetosis Delayed gross motor development Delayed fine motor development Falls Ataxia Show more (+8) |
Chorea
Motor delay |
|
No
|
♂
|
C
|
AUS
|
1
|
n.a.
|
Yes
|
Trigger: Stress
Cerebellar signs -Motor Global developmental delay Ataxia Falls Dysarthria Developmental delay Motor delay Athetosis Delayed fine motor development Delayed gross motor development Chorea Delayed speech and language development Speech disturbance Show more (+12) |
Motor delay
Chorea |
|
Yes
|
♂
|
C
|
AUS
|
n.a.
|
49
|
Yes
|
-Motor
Tremor, intention Motor delay Dysarthria Tremor, action Delayed fine motor development Speech disturbance Global developmental delay Cerebellar signs Ataxia Delayed gross motor development Falls Delayed speech and language development Developmental delay Tremor (any or unspecified) Show more (+12) |
Motor delay
Ataxia |