Asmus, 2009: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
2
6
No
Chorea
Athetosis
Dystonia
Dystonia, leg
Cerebellar signs
Dystonia (any or unspecified)
Developmental regression
Falls
Ataxia
-Motor
Delayed gross motor development
Gait impairment
Show more (+9)
Chorea
Falls
p.Tyr144*: het