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