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