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