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