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