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