Kleiner-Fisman, 2003: 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.
CAN
2
n.a.
Yes
Chorea
Delayed gross motor development
Developmental delay
Gait impairment
Delayed fine motor development
-Motor
Athetosis
Motor delay
Global developmental delay
Mild global developmental delay
Show more (+7)
Developmental delay
c.464-2A>T: het
No
n.a.
CAN
2
19
Yes
-Motor
Global developmental delay
Dystonia, generalized
Developmental delay
Motor delay
Dystonic posturing
Delayed gross motor development
Chorea
Delayed fine motor development
Athetosis
Myoclonus
Mild global developmental delay
Show more (+9)
Developmental delay
c.464-2A>T: het
Yes
n.a.
CAN
16
53
Yes
Chorea
Motor delay
Gait impairment
Athetosis
Mild global developmental delay
-Motor
Ataxia
Developmental delay
Delayed gross motor development
Delayed fine motor development
Global developmental delay
Show more (+8)
Developmental delay
c.464-2A>T: het
No
n.a.
CAN
2
n.a.
Yes
Chorea
Developmental delay
Delayed fine motor development
Motor delay
Athetosis
Delayed gross motor development
-Motor
Global developmental delay
Mild global developmental delay
Show more (+6)
Developmental delay
c.464-2A>T: het
No
n.a.
CAN
2
n.a.
Yes
Chorea
Delayed gross motor development
Delayed fine motor development
Motor delay
-Motor
Developmental delay
Mild global developmental delay
Global developmental delay
Athetosis
Show more (+6)
Developmental delay
c.464-2A>T: het