| 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, Upper Limb Developmental delay Dyskinesia Dystonia (any or unspecified) Myoclonus, lower limb Myoclonus, multifocal Dystonia, upper limb Show more (+5) |
Developmental delay
|