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