Konishi, 2013: 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
A
JPN
3
58
Yes
Delayed gross motor development
-Motor
Motor delay
Chorea
Athetosis
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Chorea
c.464-9C>A: het
Yes
A
JPN
8
25
Yes
Motor delay
-Motor
Delayed gross motor development
Gait impairment
Falls
Athetosis
Chorea
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Gait impairment
Chorea
c.464-9C>A: het
No
A
JPN
8
52
Yes
Athetosis
Delayed gross motor development
Motor delay
Falls
Gait impairment
Chorea
-Motor
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Motor delay
Falls
Chorea
c.464-9C>A: het
No
A
JPN
3
25
Yes
-Motor
Athetosis
Chorea
Motor delay
Delayed gross motor development
Show more (+2)
Chorea
c.464-9C>A: het