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