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