| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
1
|
7
|
n.a.
|
Lower limb dystonia
Postural instability Developmental delay Hypotonia Dystonia, axial Residual motor signs Upper limb dystonia Intellectual developmental disorder Dyskinesia Delayed motor development Dystonia (any or unspecified) Dystonia, limb Cognitive impairment Dystonia, generalized Show more (+11) |
Hypotonia
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
n.a.
|
Diurnal fluctuations
Developmental delay Intellectual developmental disorder Dystonia (any or unspecified) Gait difficulties Dystonia, limb Postural instability Lower limb dystonia Delayed motor development Show more (+6) |
Gait difficulties
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
n.a.
|
n.a.
|
Developmental delay
Parkinsonism Tremor (any or unspecified) Delayed motor development Upper limb dystonia Postural instability Rigidity Hypotonia Dystonia (any or unspecified) Dystonia, limb Lower limb dystonia Diurnal fluctuations Dystonia, axial Dystonia/Parkinsonism Cognitive impairment Oculogyric crisis Gait difficulties Dystonia, generalized Dyskinesia Intellectual developmental disorder Show more (+17) |
Hypotonia
Oculogyric crisis |
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
n.a.
|
Dyskinesia
Residual motor signs Delayed motor development Upper limb dystonia Parkinsonism Dystonia/Parkinsonism Diurnal fluctuations Developmental delay Lower limb dystonia Dystonia (any or unspecified) Dystonia, generalized Hypotonia Intellectual developmental disorder Dystonia, axial Postural instability Cognitive impairment Dystonia, limb Tremor (any or unspecified) Show more (+15) |
Hypotonia
Tremor (any or unspecified) |