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