Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
ITA
|
n.a.
|
56
|
Yes
|
Chorea
-Motor Motor delay Hypothyroidism Developmental delay Mild global developmental delay Global developmental delay Athetosis Delayed gross motor development Show more (+6) |
Chorea
|
|
Yes
|
♂
|
n.a.
|
ITA
|
n.a.
|
n.a.
|
Yes
|
Hypothyroidism
Delayed speech and language development Delayed gross motor development Chorea Developmental delay Motor delay Athetosis -Motor Speech disturbance Global developmental delay Delayed fine motor development Show more (+8) |
Chorea
|
|
No
|
♀
|
n.a.
|
ITA
|
7
|
26
|
Yes
|
Ataxia
Psychotic sign/sympt. Gait impairment -Motor Falls Hypothyroidism Athetosis Chorea Depression Show more (+6) |
Falls
Chorea |