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