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