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