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