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