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