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