| 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
Dystonia, segmental/multifocal Bradykinesia Delayed motor development Developmental delay Hyperreflexia Intellectual developmental disorder Autonomic sign/sympt. Parkinsonism Rigidity Dystonia/Parkinsonism Lower limb dystonia Hypotonia Myoclonus Oculogyric crisis Dystonia, limb Tremor (any or unspecified) Upper limb dystonia Dystonia (any or unspecified) Gait difficulties Show more (+17) |
Bradykinesia
Hypotonia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
11
|
n.a.
|
Dystonia, limb
Lower limb dystonia Residual motor signs Dystonia, cervical Short stature Bradykinesia Tremor (any or unspecified) Decreased body weight Diurnal fluctuations Delayed motor development Dyskinesia Intellectual developmental disorder Oculogyric crisis Upper limb dystonia Gait difficulties Rigidity Developmental delay Dystonia, segmental/multifocal Hypotonia Cognitive impairment Dystonia (any or unspecified) Autonomic sign/sympt. Dystonia/Parkinsonism Parkinsonism Hyperreflexia Show more (+22) |
Dystonia, cervical
Oculogyric crisis |