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