| 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
Hypotonia Delayed motor development Dyskinesia Gait difficulties Dystonia/Parkinsonism Cognitive impairment Bradykinesia Dystonia, limb Dystonia, segmental/multifocal Upper limb dystonia Diurnal fluctuations Developmental delay Tremor (any or unspecified) Parkinsonism Intellectual developmental disorder Motor fluctuations Oculogyric crisis Dystonia (any or unspecified) Decreased body weight Short stature Sleep disorder Show more (+19) |
Hypotonia
Developmental delay Tremor (any or unspecified) |