Gras, 2012: 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.
FRA
n.a.
n.a.
Yes
Muscular hypotonia
Myoclonus
-Motor
Cognitive impairment
Chorea
Show more (+2)
n.a.
No
n.a.
FRA
n.a.
n.a.
Yes
-Motor
Muscular hypotonia
Chorea
n.a.
p.Tyr244*: het
No
n.a.
FRA
n.a.
n.a.
Yes
Cognitive impairment
Chorea
-Motor
n.a.
Yes
n.a.
FRA
3
n.a.
No
Chorea
-Motor
Muscular hypotonia
Cognitive impairment
Dystonia
Dystonia (any or unspecified)
Hypothyroidism
Show more (+4)
n.a.
No
n.a.
FRA
n.a.
n.a.
Yes
Chorea
-Motor
Muscular hypotonia
n.a.
No
n.a.
FRA
n.a.
n.a.
Yes
Chorea
Dystonia (any or unspecified)
-Motor
Muscular hypotonia
Hypothyroidism
Dystonia
Show more (+3)
n.a.
Yes
n.a.
FRA
4
n.a.
No
-Motor
Muscular hypotonia
Cognitive impairment
Chorea
Show more (+1)
n.a.
No
n.a.
FRA
n.a.
n.a.
Yes
-Motor
Chorea
Muscular hypotonia
Dystonia
Dystonia (any or unspecified)
Hypothyroidism
Show more (+3)
n.a.
p.Tyr116*: het
No
n.a.
FRA
n.a.
n.a.
Yes
-Motor
Hypothyroidism
Chorea
n.a.
p.Tyr116*: het
Yes
n.a.
FRA
1
n.a.
Yes
Muscular hypotonia
Chorea
Hypothyroidism
-Motor
Show more (+1)
n.a.
p.Tyr244*: het