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