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