Krude, 2002: 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.
n.a.
n.a.
2
n.a.
Delayed gross motor development
Chorea
Global developmental delay
Athetosis
Developmental delay
-Motor
Muscular hypotonia
Show more (+4)
n.a.
p.Cys117*: het
Yes
n.a.
n.a.
n.a.
n.a.
16
n.a.
Chorea
Global developmental delay
Delayed gross motor development
Developmental delay
Athetosis
-Motor
Show more (+3)
n.a.
Yes
n.a.
n.a.
n.a.
n.a.
3
n.a.
Athetosis
Global developmental delay
Developmental delay
Chorea
Delayed gross motor development
-Motor
Show more (+3)
n.a.
Yes
n.a.
n.a.
n.a.
n.a.
13
n.a.
-Motor
Athetosis
Global developmental delay
Chorea
Developmental delay
Delayed gross motor development
Show more (+3)
n.a.
p.Ser199*: het
Yes
n.a.
n.a.
n.a.
n.a.
15
n.a.
-Motor
Developmental delay
Delayed gross motor development
Chorea
Athetosis
Global developmental delay
Show more (+3)
n.a.