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