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