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