| 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
Dystonia, axial Dystonia (any or unspecified) Developmental delay Dyskinesia Residual motor signs Oculogyric crisis Gait difficulties Cognitive impairment Sleep disorder Bradykinesia Spasticity Delayed motor development Diurnal fluctuations Dystonia/Parkinsonism Autonomic sign/sympt. Intellectual developmental disorder Hypotonia Motor fluctuations Parkinsonism Decreased body weight Short stature Microcephaly Show more (+20) |
Dystonia (any or unspecified)
Developmental delay Hypotonia |