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