Thorwarth, 2014: 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.
DEU
n.a.
n.a.
Yes
Chorea
-Motor
Athetosis
Muscular hypotonia
Show more (+1)
n.a.
Yes
n.a.
DEU
n.a.
n.a.
No
-Motor
Muscular hypotonia
Athetosis
Chorea
Show more (+1)
n.a.
Yes
n.a.
DEU
n.a.
n.a.
n.a.
Muscular hypotonia
-Motor
Athetosis
Chorea
Show more (+1)
n.a.
Yes
n.a.
DEU
n.a.
n.a.
No
-Motor
Athetosis
Muscular hypotonia
Chorea
Show more (+1)
n.a.
Yes
n.a.
DEU
n.a.
n.a.
No
Athetosis
Muscular hypotonia
-Motor
Chorea
Show more (+1)
n.a.
Yes
n.a.
DEU
n.a.
n.a.
No
Athetosis
Chorea
Muscular hypotonia
-Motor
Show more (+1)
n.a.
Yes
n.a.
DEU
n.a.
n.a.
No
-Motor
Chorea
Muscular hypotonia
Athetosis
Show more (+1)
n.a.
Yes
n.a.
DEU
n.a.
n.a.
Yes
Chorea
Athetosis
-Motor
Muscular hypotonia
Show more (+1)
n.a.
Yes
n.a.
DEU
n.a.
n.a.
n.a.
Muscular hypotonia
-Motor
Athetosis
Chorea
Show more (+1)
n.a.
p.Tyr204*: het
Yes
n.a.
DEU
n.a.
n.a.
Yes
Athetosis
Muscular hypotonia
-Motor
Chorea
Show more (+1)
n.a.
p.Cys117*: het