Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
GBR
|
7
|
11
|
No
|
-Motor
Chorea Dystonia Developmental delay Muscular hypotonia Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
1
|
18
|
Yes
|
Myoclonus
Muscular hypotonia Cerebellar signs Chorea Developmental delay -Motor Ataxia Show more (+4) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
2
|
16
|
No
|
Dysarthria
-Motor Dystonia Muscular hypotonia Speech disturbance Chorea Dystonia (any or unspecified) Myoclonus Developmental delay Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
3
|
12
|
No
|
Muscular hypotonia
Dystonia (any or unspecified) Dystonia Speech disturbance -Motor Chorea Dysarthria Developmental delay Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
1
|
4
|
No
|
Cerebellar signs
Dystonia (any or unspecified) Muscular hypotonia Ataxia -Motor Dystonia Chorea Myoclonus Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
3
|
3
|
Yes
|
Dystonia
Dysarthria Dystonia (any or unspecified) Myoclonus -Motor Spasticity Hypothyroidism Chorea Speech disturbance Developmental delay Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
n.a.
|
5
|
No
|
Chorea
Tremor (any or unspecified) -Motor |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
1
|
2
|
Yes
|
Dysarthria
Muscular hypotonia Myoclonus Hypothyroidism -Motor Speech disturbance Chorea Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
6
|
6
|
No
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
GBR
|
13
|
14
|
No
|
Hypothyroidism
Ataxia Dystonia Cerebellar signs Dystonia (any or unspecified) Muscular hypotonia -Motor Chorea Show more (+5) |
n.a.
|