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