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