Koht, 2016: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
NOR
n.a.
n.a.
Yes
-Motor
Chorea
Cerebellar signs
Cognitive impairment
Speech disturbance
Show more (+2)
n.a.
No
n.a.
NOR
n.a.
n.a.
Yes
Cerebellar signs
-Motor
Dystonia
Speech disturbance
Dystonia (any or unspecified)
Chorea
Show more (+3)
n.a.
No
n.a.
NOR
n.a.
n.a.
Yes
Chorea
Speech disturbance
Cerebellar signs
-Motor
Show more (+1)
n.a.
No
n.a.
NOR
n.a.
n.a.
Yes
Chorea
Cerebellar signs
-Motor
Dystonia
Show more (+1)
n.a.
No
n.a.
NOR
n.a.
n.a.
Yes
Chorea
Dystonia
Cerebellar signs
-Motor
Dystonia (any or unspecified)
Show more (+2)
n.a.
No
n.a.
NOR
n.a.
n.a.
Yes
-Motor
Ataxia
Chorea
Dystonia
Dystonia (any or unspecified)
Cerebellar signs
Show more (+3)
n.a.
No
n.a.
NOR
n.a.
n.a.
Yes
Cerebellar signs
Speech disturbance
Chorea
-Motor
Show more (+1)
n.a.
Yes
n.a.
NOR
n.a.
34
Yes
-Motor
Chorea
Gait impairment
Myoclonus
Ataxia
Cerebellar signs
Show more (+3)
Chorea
Myoclonus
Ataxia