| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ITA
|
0
|
2
|
No
|
Bradykinesia
Developmental delay Upper limb dystonia Intellectual developmental disorder Hyperreflexia Dystonia (any or unspecified) Parkinsonism Lower limb dystonia Diurnal fluctuations Autonomic sign/sympt. Oculogyric crisis Hypotonia Cognitive impairment Delayed motor development Rigidity Residual motor signs Dystonia, limb Dystonia/Parkinsonism Show more (+15) |
Bradykinesia
Hypotonia |