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