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