| 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.
Rigidity Developmental delay Intellectual developmental disorder Dystonia/Parkinsonism Bradykinesia Upper limb dystonia Oculogyric crisis Dystonia, limb Dystonia (any or unspecified) Cognitive impairment Residual motor signs Hypotonia Diurnal fluctuations Hyperreflexia Delayed motor development Lower limb dystonia Parkinsonism Show more (+15) |
Bradykinesia
Hypotonia |