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