Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ITA
|
2
|
17
|
No
|
Dystonia (any or unspecified)
Developmental delay Developmental regression Cognitive impairment Dysarthria Spasticity Parkinsonism Residual motor signs Bradykinesia Dystonia/Parkinsonism Postural instability Intellectual developmental disorder Delayed motor development Oculogyric crisis Gait difficulties Hyperreflexia Dyskinesia Myoclonus Show more (+15) |
n.a.
|