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