Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
ESP
|
2
|
6
|
No
|
Cerebellar signs
Global developmental delay Motor delay Developmental delay -Motor Chorea Muscular hypotonia Delayed fine motor development Severe global developmental delay Ataxia Falls Delayed gross motor development Hypothyroidism Gait impairment Athetosis Show more (+12) |
Motor delay
Chorea |