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