Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
ITA
|
n.a.
|
9
|
No
|
Dystonia
Delayed gross motor development Hypothyroidism Falls -Motor Dystonia (any or unspecified) Athetosis Myoclonus Developmental delay Chorea Motor delay Gait impairment Show more (+9) |
Chorea
Gait impairment |
|
Yes
|
♀
|
n.a.
|
ESP
|
2
|
32
|
n.a.
|
Dystonia, foot
Dystonic posturing Ballism Ataxia Dystonia (any or unspecified) Dystonia, hand Falls -Motor Athetosis Developmental delay Motor delay Chorea Cerebellar signs Dystonia, task-specific Myoclonus Gait impairment Delayed gross motor development Dystonia Hypothyroidism Show more (+16) |
Chorea
Gait impairment |