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