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