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