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