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