Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
GBR
|
1
|
n.a.
|
Yes
|
-Motor
Motor delay Developmental delay Ataxia Cerebellar signs Delayed gross motor development Chorea Show more (+4) |
Chorea
|
|
No
|
♂
|
n.a.
|
GBR
|
1
|
n.a.
|
Yes
|
-Motor
Chorea Hypothyroidism |
Chorea
|
|
Yes
|
♂
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
Yes
|
Developmental delay
Cerebellar signs Motor delay Hypothyroidism Tremor, action Tremor (any or unspecified) Ataxia Tremor, intention -Motor Chorea Delayed gross motor development Show more (+8) |
Ataxia
Chorea |