| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
n.a.
|
0
|
9
|
n.a.
|
Hypotonia
Dystonia, segmental/multifocal Bradykinesia Hyperreflexia Tremor (any or unspecified) Parkinsonism Myoclonus Gait difficulties Intellectual developmental disorder Dystonia, limb Oculogyric crisis Upper limb dystonia Autonomic sign/sympt. Lower limb dystonia Developmental delay Dystonia/Parkinsonism Rigidity Cognitive impairment Delayed motor development Dystonia (any or unspecified) Show more (+17) |
Hypotonia
Bradykinesia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
11
|
n.a.
|
Autonomic sign/sympt.
Parkinsonism Cognitive impairment Intellectual developmental disorder Upper limb dystonia Short stature Diurnal fluctuations Bradykinesia Tremor (any or unspecified) Oculogyric crisis Delayed motor development Dystonia, limb Rigidity Hyperreflexia Lower limb dystonia Developmental delay Hypotonia Dystonia/Parkinsonism Gait difficulties Residual motor signs Dystonia, cervical Dyskinesia Dystonia, segmental/multifocal Decreased body weight Dystonia (any or unspecified) Show more (+22) |
Oculogyric crisis
Dystonia, cervical |