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