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