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