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