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