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