| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
CZE
|
0
|
6
|
n.a.
|
Parkinsonism
Residual motor signs Spasticity Hypotonia Dystonia, generalized Cognitive impairment Decreased body weight Dystonia/Parkinsonism Sleep disorder Developmental delay Delayed motor development Microcephaly Diurnal fluctuations Gait difficulties Intellectual developmental disorder Autonomic sign/sympt. Short stature Dystonia, axial Dystonia (any or unspecified) Dyskinesia Motor fluctuations Oculogyric crisis Bradykinesia Show more (+20) |
Hypotonia
Developmental delay Dystonia (any or unspecified) |