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