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