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