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