| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
8
|
n.a.
|
Parkinsonism
Tremor (any or unspecified) Dysmorphic features Dystonia, generalized Dystonia (any or unspecified) Severe global developmental delay Myoclonus Motor delay Short stature Global developmental delay Bradykinesia Muscular hypotonia Cognitive impairment Rigidity Profound global developmental delay Dystonia, limb Delayed speech and language development Dystonia, leg Show more (+15) |
n.a.
|