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