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