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