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