Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
0
|
13
|
n.a.
|
Residual motor signs
Hypotonia Gait difficulties Dystonia, axial Dystonia, generalized Lower limb dystonia Developmental delay Cognitive impairment Parkinsonism Dyskinesia Hyperreflexia Dystonia/Parkinsonism Dystonia, limb Bradykinesia Intellectual developmental disorder Tremor (any or unspecified) Motor fluctuations Dystonia (any or unspecified) Rigidity Postural instability Oculogyric crisis Delayed motor development Autonomic sign/sympt. Show more (+20) |
Developmental delay
Dystonia, limb |
|
No
|
♀
|
A
|
CHN
|
0
|
11
|
n.a.
|
Cognitive impairment
Intellectual developmental disorder Bradykinesia Dystonia (any or unspecified) Residual motor signs Gait difficulties Dystonia, axial Developmental delay Hyperreflexia Delayed motor development Motor fluctuations Autonomic sign/sympt. Tremor (any or unspecified) Rigidity Dystonia/Parkinsonism Hypotonia Dyskinesia Oculogyric crisis Dystonia, generalized Parkinsonism Show more (+17) |
Developmental delay
|