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