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