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
Athetosis
Cerebellar signs
-Motor
Dystonia, leg
Gait impairment
Delayed gross motor development
Dystonia (any or unspecified)
Dystonia
Developmental regression
Chorea
Ataxia
Falls
Show more (+9)
Chorea
Falls
p.Tyr144*: het