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