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