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