| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
0
|
1
|
No
|
Dystonia, axial
Resting tremor Dystonia (any or unspecified) Oculogyric crisis Delayed motor development Dystonia, focal Sleep benefit Developmental delay Tremor (any or unspecified) Bradykinesia Microcephaly Spasticity Parkinsonism Rigidity Myoclonus Dystonia/Parkinsonism Show more (+13) |
n.a.
|