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