Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
ARG
|
n.a.
|
19
|
No
|
Myoclonus, cervical
Developmental delay Myoclonus Myoclonus, face Myoclonus, multifocal Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus, action Show more (+5) |
Dystonia (any or unspecified)
|