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