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