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