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