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