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