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