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