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