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