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