| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ROU
|
0
|
3
|
No
|
Hypotonia
Dystonia, segmental/multifocal Developmental regression Short stature Developmental delay Postural instability Cognitive impairment Intellectual developmental disorder Dystonia (any or unspecified) Tremor, action Myoclonus Dystonia/Parkinsonism Lower limb dystonia Parkinsonism Decreased body weight Bradykinesia Upper limb dystonia Dystonia, limb Delayed motor development Tremor (any or unspecified) Rigidity Show more (+18) |
Developmental delay
Myoclonus |