| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ITA
|
2
|
17
|
No
|
Myoclonus
Cognitive impairment Parkinsonism Postural instability Intellectual developmental disorder Developmental regression Dystonia/Parkinsonism Dysarthria Dyskinesia Hyperreflexia Gait difficulties Developmental delay Bradykinesia Oculogyric crisis Delayed motor development Spasticity Residual motor signs Dystonia (any or unspecified) Show more (+15) |
n.a.
|