| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
0
|
13
|
n.a.
|
Dystonia/Parkinsonism
Lower limb dystonia Tremor (any or unspecified) Postural instability Autonomic sign/sympt. Rigidity Delayed motor development Bradykinesia Dyskinesia Dystonia, limb Intellectual developmental disorder Hyperreflexia Motor fluctuations Dystonia, axial Residual motor signs Parkinsonism Dystonia (any or unspecified) Cognitive impairment Developmental delay Dystonia, generalized Oculogyric crisis Gait difficulties Hypotonia Show more (+20) |
Dystonia, limb
Developmental delay |
|
No
|
♀
|
A
|
CHN
|
0
|
11
|
n.a.
|
Dystonia/Parkinsonism
Hyperreflexia Dystonia, axial Bradykinesia Dystonia, generalized Dystonia (any or unspecified) Dyskinesia Motor fluctuations Developmental delay Cognitive impairment Intellectual developmental disorder Hypotonia Delayed motor development Oculogyric crisis Rigidity Autonomic sign/sympt. Residual motor signs Parkinsonism Tremor (any or unspecified) Gait difficulties Show more (+17) |
Developmental delay
|