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