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