| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
n.a.
|
0
|
9
|
n.a.
|
Cognitive impairment
Autonomic sign/sympt. Intellectual developmental disorder Parkinsonism Gait difficulties Lower limb dystonia Hyperreflexia Upper limb dystonia Tremor (any or unspecified) Dystonia, limb Delayed motor development Dystonia (any or unspecified) Oculogyric crisis Bradykinesia Dystonia, segmental/multifocal Rigidity Myoclonus Dystonia/Parkinsonism Hypotonia Developmental delay Show more (+17) |
Bradykinesia
Hypotonia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
11
|
n.a.
|
Gait difficulties
Dystonia, limb Developmental delay Tremor (any or unspecified) Dystonia, cervical Decreased body weight Dystonia (any or unspecified) Hypotonia Parkinsonism Oculogyric crisis Dystonia/Parkinsonism Delayed motor development Intellectual developmental disorder Diurnal fluctuations Short stature Lower limb dystonia Hyperreflexia Bradykinesia Autonomic sign/sympt. Dystonia, segmental/multifocal Residual motor signs Cognitive impairment Rigidity Upper limb dystonia Dyskinesia Show more (+22) |
Dystonia, cervical
Oculogyric crisis |