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