| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
CHN
|
3
|
28
|
No
|
Gait difficulties
Rigidity Dysarthria Decreased body weight Dystonia, generalized Diurnal fluctuations Parkinsonism Dystonia (any or unspecified) Hyperreflexia Lower limb dystonia Dystonia, limb Dystonia/Parkinsonism Oculogyric crisis Dystonia, axial Bradykinesia Show more (+12) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
7
|
41
|
n.a.
|
Gait difficulties
Dystonia, generalized Oculogyric crisis Diurnal fluctuations Short stature Bradykinesia Decreased body weight Dystonia, axial Parkinsonism Delayed motor development Dystonia (any or unspecified) Dystonia/Parkinsonism Dysarthria Hyperreflexia Show more (+11) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
0
|
12
|
No
|
Autonomic sign/sympt.
Dystonia, generalized Dystonia (any or unspecified) Decreased body weight Residual motor signs Dystonia, axial Hyperreflexia Bradykinesia Cognitive impairment Hypotonia Intellectual developmental disorder Delayed motor development Oculogyric crisis Developmental delay Show more (+11) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
1
|
7
|
No
|
Oculogyric crisis
Dystonia, axial Dystonia/Parkinsonism Dystonia (any or unspecified) Rigidity Residual motor signs Intellectual developmental disorder Motor fluctuations Hypotonia Hyperreflexia Decreased body weight Dystonia, generalized Cognitive impairment Delayed motor development Developmental delay Parkinsonism Short stature Bradykinesia Show more (+15) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
3
|
18
|
No
|
Tremor (any or unspecified)
Bradykinesia Gait difficulties Parkinsonism Diurnal fluctuations Dysarthria Show more (+3) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
22
|
No
|
Autonomic sign/sympt.
Motor fluctuations Hyperreflexia Rigidity Intellectual developmental disorder Delayed motor development Oculogyric crisis Bradykinesia Dystonia, axial Dystonia, generalized Dystonia/Parkinsonism Microcephaly Short stature Dystonia (any or unspecified) Cognitive impairment Developmental delay Residual motor signs Decreased body weight Hypotonia Parkinsonism Show more (+17) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
2
|
No
|
Hyperreflexia
Decreased body weight Bradykinesia Parkinsonism Hypotonia Developmental delay Delayed motor development Residual motor signs Show more (+5) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
1
|
6
|
No
|
Oculogyric crisis
Residual motor signs Intellectual developmental disorder Dystonia/Parkinsonism Dystonia (any or unspecified) Lower limb dystonia Dystonia, focal Delayed motor development Dysarthria Dystonia, limb Hypotonia Developmental delay Parkinsonism Hyperreflexia Cognitive impairment Bradykinesia Show more (+13) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
0
|
14
|
No
|
Oculogyric crisis
Decreased body weight Hypotonia Residual motor signs Delayed motor development Dystonia, generalized Dystonia (any or unspecified) Hyperreflexia Intellectual developmental disorder Developmental delay Dystonia, axial Cognitive impairment Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
7
|
37
|
n.a.
|
Diurnal fluctuations
Lower limb dystonia Dystonia, axial Bradykinesia Dystonia, limb Dystonia, generalized Gait difficulties Short stature Hyperreflexia Dystonia (any or unspecified) Show more (+7) |
n.a.
|