| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
GRC
|
0
|
7
|
n.a.
|
Dystonia, segmental/multifocal
Developmental delay Oculogyric crisis Residual motor signs Gait difficulties Cognitive impairment Sleep disorder Tremor (any or unspecified) Dystonia, limb Parkinsonism Delayed motor development Intellectual developmental disorder Diurnal fluctuations Bradykinesia Decreased body weight Dystonia (any or unspecified) Short stature Hypotonia Motor fluctuations Upper limb dystonia Dyskinesia Dystonia/Parkinsonism Show more (+19) |
Developmental delay
Tremor (any or unspecified) Hypotonia |