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