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