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