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