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