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