| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
No
|
Global developmental delay
Tremor, action Tremor, limb Dystonia (any or unspecified) Motor delay Tremor (any or unspecified) Parkinsonism Muscular hypotonia Cognitive impairment Dystonia/Parkinsonism Show more (+7) |
Muscular hypotonia
|