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