Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
0
|
41
|
Yes
|
Dystonia
Delayed speech and language development -Motor Developmental delay Chorea Profound global developmental delay Delayed gross motor development Delayed fine motor development Severe global developmental delay Gait impairment Dystonia, axial Cognitive impairment Motor delay Show more (+10) |
Chorea
|
|
No
|
♂
|
n.a.
|
n.a.
|
0
|
39
|
Yes
|
Developmental delay
Chorea Cognitive impairment Dystonia Severe global developmental delay Delayed gross motor development Delayed speech and language development Gait impairment Delayed fine motor development -Motor Profound global developmental delay Dystonia, axial Motor delay Show more (+10) |
Chorea
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
64
|
Yes
|
-Motor
Chorea |
Chorea
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
42
|
Yes
|
Delayed speech and language development
Developmental delay Profound global developmental delay Cognitive impairment Motor delay Chorea Delayed gross motor development Dystonia -Motor Gait impairment Delayed fine motor development Severe global developmental delay Dystonia, axial Show more (+10) |
Chorea
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
36
|
Yes
|
Chorea
-Motor |
Chorea
|