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