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