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