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