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