| 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
Rigidity Dystonia, limb Myoclonus Profound global developmental delay Bradykinesia Dystonia, generalized Dystonia (any or unspecified) Cognitive impairment Severe global developmental delay Global developmental delay Dysmorphic features Motor delay Dystonia, leg Delayed speech and language development Muscular hypotonia Short stature Tremor (any or unspecified) Show more (+15) |
n.a.
|