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