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