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