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