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