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