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