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