Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
n.a.
|
8
|
No
|
Developmental delay
Dyskinesia Myoclonus, lower limb Myoclonus, multifocal Myoclonus, Upper Limb Dystonia (any or unspecified) Dystonia, upper limb Myoclonus Show more (+5) |
Developmental delay
|