| 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
Motor fluctuations Parkinsonism Hypotonia Rigidity Dystonia, limb Developmental delay Intellectual developmental disorder Delayed motor development Dystonia, axial Lower limb dystonia Cognitive impairment Residual motor signs Dystonia (any or unspecified) Oculogyric crisis Dyskinesia Autonomic sign/sympt. Hyperreflexia Postural instability Gait difficulties Bradykinesia Tremor (any or unspecified) Dystonia, generalized Show more (+20) |
Dystonia, limb
Developmental delay |
|
No
|
♀
|
A
|
CHN
|
0
|
11
|
n.a.
|
Dyskinesia
Parkinsonism Dystonia (any or unspecified) Rigidity Hypotonia Tremor (any or unspecified) Cognitive impairment Autonomic sign/sympt. Delayed motor development Dystonia, generalized Intellectual developmental disorder Bradykinesia Oculogyric crisis Residual motor signs Motor fluctuations Dystonia/Parkinsonism Gait difficulties Hyperreflexia Developmental delay Dystonia, axial Show more (+17) |
Developmental delay
|