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