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