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
Chorea
Motor delay
Delayed gross motor development
Athetosis
-Motor
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Chorea
c.464-9C>A: het
Yes
A
JPN
8
25
Yes
Gait impairment
Chorea
Motor delay
-Motor
Athetosis
Delayed gross motor development
Falls
Show more (+4)
Gait impairment
Chorea
c.464-9C>A: het
No
A
JPN
8
52
Yes
Chorea
Motor delay
-Motor
Athetosis
Gait impairment
Falls
Delayed gross motor development
Show more (+4)
Chorea
Motor delay
Falls
c.464-9C>A: het
No
A
JPN
3
25
Yes
Chorea
Athetosis
Motor delay
Delayed gross motor development
-Motor
Show more (+2)
Chorea
c.464-9C>A: het