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