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