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