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