Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
ITA
|
3
|
12
|
n.a.
|
Falls
Chorea Developmental delay Delayed gross motor development Gait impairment -Motor Motor delay Show more (+4) |
Chorea
|
|
Yes
|
♀
|
n.a.
|
ITA
|
1
|
2
|
No
|
Falls
Muscular hypotonia Dystonia, arm Dystonia Ataxia Gait impairment -Motor Chorea Cerebellar signs Developmental delay Dystonia, generalized Motor delay Dystonia, foot Facial twitches Dystonia (any or unspecified) Delayed gross motor development Show more (+13) |
Dystonia
Chorea |