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