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