| 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
Developmental delay Postural instability Upper limb dystonia Dystonia, generalized Cognitive impairment Dyskinesia Residual motor signs Hypotonia Dystonia, limb Dystonia, axial Intellectual developmental disorder Delayed motor development Dystonia (any or unspecified) Show more (+11) |
Hypotonia
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
n.a.
|
Intellectual developmental disorder
Dystonia (any or unspecified) Lower limb dystonia Developmental delay Dystonia, limb Gait difficulties Diurnal fluctuations Delayed motor development Postural instability Show more (+6) |
Gait difficulties
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
n.a.
|
n.a.
|
Developmental delay
Tremor (any or unspecified) Intellectual developmental disorder Delayed motor development Rigidity Oculogyric crisis Dystonia, limb Gait difficulties Cognitive impairment Dystonia (any or unspecified) Dystonia/Parkinsonism Postural instability Upper limb dystonia Dystonia, axial Hypotonia Parkinsonism Lower limb dystonia Dystonia, generalized Diurnal fluctuations Dyskinesia Show more (+17) |
Oculogyric crisis
Hypotonia |
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
n.a.
|
Postural instability
Delayed motor development Hypotonia Upper limb dystonia Dystonia, generalized Developmental delay Cognitive impairment Diurnal fluctuations Dystonia/Parkinsonism Residual motor signs Dyskinesia Parkinsonism Lower limb dystonia Intellectual developmental disorder Dystonia (any or unspecified) Dystonia, axial Tremor (any or unspecified) Dystonia, limb Show more (+15) |
Hypotonia
Tremor (any or unspecified) |