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