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